ClinVar Miner

List of variants in gene WAC reported as likely pathogenic for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs) rs2132826154
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter) rs753403940
NM_016628.5(WAC):c.1407del (p.Ser470fs) rs2132834429
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_016628.5(WAC):c.1747-2A>G
NM_016628.5(WAC):c.272del (p.Gly91fs)
NM_016628.5(WAC):c.275-1G>A rs2132628986
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.438del (p.Tyr147fs) rs2132669171
NM_016628.5(WAC):c.472dup (p.Glu158fs) rs2132669368
NM_016628.5(WAC):c.497+2T>G
NM_016628.5(WAC):c.610+2T>G
NM_016628.5(WAC):c.811C>T (p.Gln271Ter) rs2132709607

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