ClinVar Miner

Variants in gene ATP8B1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001374385.1(ATP8B1):c.3561G>A (p.Ala1187=)

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