ClinVar Miner

List of variants in gene combination CRLF1, LOC112543470 reported as pathogenic for cold-induced sweating syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter) rs1976145478
NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter) rs1199919814
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) rs137853145
NM_004750.5(CRLF1):c.845_846del (p.Val282fs) rs137853928
NM_004750.5(CRLF1):c.857_864del (p.Val286fs) rs367543004

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