ClinVar Miner

List of variants reported as uncertain significance for sudden cardiac failure, infantile by PPA2 laboratory, University of Otago

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_176869.3(PPA2):c.340A>G (p.Met114Val) rs375129675 0.00002
NM_176869.3(PPA2):c.443C>G (p.Thr148Ser) rs778534602 0.00002
NM_176869.3(PPA2):c.250C>T (p.Arg84Ter) rs781655422 0.00001
NM_176869.3(PPA2):c.346C>T (p.Pro116Ser) rs373735128 0.00001
NM_176869.3(PPA2):c.389C>T (p.Ala130Val) rs1722388188 0.00001
NM_176869.3(PPA2):c.503T>C (p.Ile168Thr) rs760824971 0.00001
NM_176869.3(PPA2):c.655+5G>A rs1409680543
NM_176869.3(PPA2):c.686G>T (p.Gly229Val) rs1344837450
NM_176869.3(PPA2):c.833T>C (p.Leu278Ser) rs2110390812
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559

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