ClinVar Miner

Variants in gene ATP1A2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00075
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00018
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000702.4(ATP1A2):c.2520G>A (p.Lys840=) rs587780283 0.00003

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