"OMIM"[submitter] AND "RNH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988661	NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp)	RNH1 (R373W)	Single nucleotide variant (missense variant)	RNH1-related condition	GUncertain significance
Select item 2575201	NM_203387.3(RNH1):c.887T>C (p.Leu296Pro)	RNH1 (L296P)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 988660	NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs)	RNH1 (S228fs)	Indel (frameshift variant)	RNH1-related condition	GUncertain significance
Select item 2457668	NM_203387.3(RNH1):c.626G>A (p.Cys209Tyr)	RNH1 (C209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575198	NM_203387.3(RNH1):c.615-2A>C	RNH1	Single nucleotide variant (splice acceptor variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2575200	NM_203387.3(RNH1):c.279G>T (p.Gln93His)	RNH1 (Q93H)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 2575203	NM_203387.3(RNH1):c.40G>T (p.Glu14Ter)	RNH1 (E14*)	Single nucleotide variant (nonsense)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor

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