ClinVar Miner

List of variants studied for Cold-induced sweating syndrome 1

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 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.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) rs137853144
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) rs104894668
NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro)
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.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.824G>C (p.Arg275Pro)
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.935G>T (p.Arg312Leu) rs137853933
NM_004750.5(CRLF1):c.983dup (p.Ser328fs) rs1555758035
NM_004750.5(CRLF1):c.985dup (p.Glu329fs) rs1600650861

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