ClinVar Miner

List of variants studied for isolated hyperchlorhidrosis

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001218.5(CA12):c.228C>T (p.Phe76=) rs139241902 0.00521
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_001218.5(CA12):c.427G>A (p.Glu143Lys) rs267606694 0.00001
NM_001218.5(CA12):c.355C>T (p.His119Tyr) rs905385980
NM_001218.5(CA12):c.363C>A (p.His121Gln) rs775067652
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs) rs879253800
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001218.5(CA12):c.956_957del (p.Val319fs) rs757974800

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