ClinVar Miner

List of variants reported as pathogenic for cold-induced sweating syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) rs1976175724 0.00001
NM_004750.5(CRLF1):c.676dup (p.Thr226fs) rs761746361 0.00001
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031710.3(KLHL7):c.1114C>T (p.Arg372Ter) rs769053076
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001031710.3(KLHL7):c.642G>C (p.Trp214Cys)
NM_001031710.3(KLHL7):c.807C>A (p.Tyr269Ter) rs1784553913
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) rs137853144
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
NM_004750.5(CRLF1):c.31_53del (p.Gln11fs) rs137853929
NM_004750.5(CRLF1):c.397+1G>A rs137853932
NM_004750.5(CRLF1):c.527+5G>A rs748847434
NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs) rs2145329741
NM_004750.5(CRLF1):c.713del (p.Pro238fs)
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
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
NM_004750.5(CRLF1):c.983dup (p.Ser328fs) rs1555758035
NM_004750.5(CRLF1):c.985dup (p.Glu329fs) rs1600650861
NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter) rs104894198
NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg) rs137853934
NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu) rs104894203
NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg) rs137853935

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