ClinVar Miner

List of variants in gene WAC reported as uncertain significance for autosomal anomaly

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016628.5(WAC):c.140G>A (p.Arg47Gln) rs374821442 0.00002
NM_016628.5(WAC):c.367A>C (p.Lys123Gln) rs949649739 0.00002
NM_016628.5(WAC):c.31C>T (p.Leu11Phe) rs139935489 0.00001
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.460G>A (p.Val154Ile) rs2132669331
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)

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