ClinVar Miner

List of variants in gene ATP6V1B1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062

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