ClinVar Miner

List of variants in gene ATP6AP1 studied for immune system disorder

Included ClinVar conditions (908):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001183.6(ATP6AP1):c.289-135= rs11156577 0.77310
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His) rs140841742 0.00241
NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His) rs781936333 0.00003
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His) rs782349780 0.00001
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) rs878853277
NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile) rs878853275
NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)
NM_001183.6(ATP6AP1):c.220C>G (p.Leu74Val)
NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro) rs2068680774
NM_001183.6(ATP6AP1):c.230_232del (p.Tyr77del) rs2148221946
NM_001183.6(ATP6AP1):c.289-233C>T
NM_001183.6(ATP6AP1):c.289-289G>A
NM_001183.6(ATP6AP1):c.294C>A (p.Ser98Arg) rs2148223097
NM_001183.6(ATP6AP1):c.301G>A (p.Asp101Asn)
NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)
NM_001183.6(ATP6AP1):c.385T>C (p.Ser129Pro)
NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro) rs878853276
NM_001183.6(ATP6AP1):c.473A>T (p.His158Leu)
NM_001183.6(ATP6AP1):c.515G>C (p.Ser172Thr)
NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)
NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg) rs1557196978
NM_001183.6(ATP6AP1):c.560C>T (p.Ser187Phe)
NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn) rs2068705545
NM_001183.6(ATP6AP1):c.725G>A (p.Arg242His)
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln) rs1603384499
NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys) rs878853278
NM_001183.6(ATP6AP1):c.971+10G>A

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