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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCF1, LOC100130987
(R45C +1 more)
Single nucleotide variant
(missense variant)
Cold-induced sweating syndrome 2
GUncertain significance
CLCF1, LOC100130987
Single nucleotide variant
(stop lost)
Cold-induced sweating syndrome 2
GPathogenic
CLCF1, LOC100130987
(C6R +1 more)
Single nucleotide variant
(missense variant)
Cold-induced sweating syndrome 2
GPathogenic
CLCF1, LOC100130987
(R197L +1 more)
Single nucleotide variant
(missense variant)
Cold-induced sweating syndrome 2
GPathogenic
CLCF1, LOC100130987
(Y107* +1 more)
Single nucleotide variant
(nonsense)
Cold-induced sweating syndrome 2
GPathogenic
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