ClinVar Miner

List of variants in gene ATP1A2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00020
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.915C>T (p.Phe305=) rs376035600 0.00004
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080 0.00001
NM_000702.4(ATP1A2):c.1173C>T (p.Phe391=)
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.2670G>C (p.Arg890=)
NM_000702.4(ATP1A2):c.57G>T (p.Gly19=)
NM_000702.4(ATP1A2):c.960C>A (p.Ile320=)

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