ClinVar Miner

List of variants in gene ATP2B3 studied for Inborn genetic diseases

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.214G>A (p.Ala72Thr) rs149114271 0.00052
NM_001001344.3(ATP2B3):c.2440G>A (p.Ala814Thr) rs782219358 0.00005
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) rs782683285 0.00003
NM_001001344.3(ATP2B3):c.3338C>T (p.Thr1113Met) rs368215361 0.00002
NM_001001344.3(ATP2B3):c.2029G>A (p.Val677Met) rs781901998 0.00001
NM_001001344.3(ATP2B3):c.2473A>G (p.Ile825Val) rs1557014686 0.00001
NM_001001344.3(ATP2B3):c.1189G>A (p.Val397Met)
NM_001001344.3(ATP2B3):c.1196G>A (p.Gly399Asp)
NM_001001344.3(ATP2B3):c.1453G>A (p.Val485Met)
NM_001001344.3(ATP2B3):c.151G>A (p.Glu51Lys)
NM_001001344.3(ATP2B3):c.1681G>A (p.Val561Met)
NM_001001344.3(ATP2B3):c.1687G>A (p.Glu563Lys)
NM_001001344.3(ATP2B3):c.1736T>C (p.Val579Ala)
NM_001001344.3(ATP2B3):c.1856T>C (p.Leu619Pro)
NM_001001344.3(ATP2B3):c.1874G>A (p.Arg625Gln)
NM_001001344.3(ATP2B3):c.1891G>A (p.Val631Met)
NM_001001344.3(ATP2B3):c.1921G>A (p.Asp641Asn)
NM_001001344.3(ATP2B3):c.1967G>A (p.Gly656Asp)
NM_001001344.3(ATP2B3):c.2347G>T (p.Gly783Cys)
NM_001001344.3(ATP2B3):c.2593A>G (p.Ile865Val)
NM_001001344.3(ATP2B3):c.2845C>T (p.Leu949Phe)
NM_001001344.3(ATP2B3):c.2872A>G (p.Asn958Asp)
NM_001001344.3(ATP2B3):c.2876C>T (p.Ala959Val)
NM_001001344.3(ATP2B3):c.2992G>A (p.Asp998Asn)
NM_001001344.3(ATP2B3):c.3259G>A (p.Glu1087Lys)
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001344.3(ATP2B3):c.3347G>A (p.Arg1116Gln)
NM_001001344.3(ATP2B3):c.3364C>T (p.Arg1122Cys)
NM_001001344.3(ATP2B3):c.3443T>A (p.Leu1148Gln)
NM_001001344.3(ATP2B3):c.3508C>A (p.Arg1170Ser)
NM_001001344.3(ATP2B3):c.3509G>A (p.Arg1170His)
NM_001001344.3(ATP2B3):c.3520C>A (p.Pro1174Thr)
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
NM_001001344.3(ATP2B3):c.473C>T (p.Ala158Val)
NM_001001344.3(ATP2B3):c.688G>A (p.Val230Met)
NM_001001344.3(ATP2B3):c.755G>T (p.Arg252Leu)
NM_001001344.3(ATP2B3):c.886G>A (p.Gly296Arg)

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