ClinVar Miner

List of variants in gene PPP2R1A reported by GeneDx

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014225.6(PPP2R1A):c.477C>T (p.Ser159=) rs11537695 0.04537
NM_014225.6(PPP2R1A):c.1192C>T (p.Arg398Trp) rs1170466801 0.00001
NM_014225.6(PPP2R1A):c.489G>T (p.Lys163Asn) rs1474301500 0.00001
NM_014225.6(PPP2R1A):c.662G>A (p.Arg221Gln) rs1405455410 0.00001
NM_014225.6(PPP2R1A):c.1006G>A (p.Asp336Asn) rs2122350869
NM_014225.6(PPP2R1A):c.115G>A (p.Ala39Thr) rs949208712
NM_014225.6(PPP2R1A):c.1166A>G (p.Asp389Gly)
NM_014225.6(PPP2R1A):c.1190T>C (p.Ile397Thr)
NM_014225.6(PPP2R1A):c.1229A>T (p.Glu410Val) rs2122360528
NM_014225.6(PPP2R1A):c.1281G>T (p.Met427Ile)
NM_014225.6(PPP2R1A):c.1400A>G (p.Lys467Arg) rs2122364716
NM_014225.6(PPP2R1A):c.1450C>T (p.Pro484Ser) rs2514101149
NM_014225.6(PPP2R1A):c.1466T>C (p.Met489Thr)
NM_014225.6(PPP2R1A):c.1492C>T (p.Arg498Cys)
NM_014225.6(PPP2R1A):c.230C>G (p.Thr77Ser) rs763692367
NM_014225.6(PPP2R1A):c.270+2T>G rs2514082725
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) rs950558629
NM_014225.6(PPP2R1A):c.317A>G (p.Asp106Gly) rs2514088357
NM_014225.6(PPP2R1A):c.427T>C (p.Ser143Pro) rs2514088599
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014225.6(PPP2R1A):c.473T>C (p.Val158Ala)
NM_014225.6(PPP2R1A):c.499C>T (p.Arg167Ter) rs2122330457
NM_014225.6(PPP2R1A):c.50T>C (p.Ile17Thr) rs1290240005
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_014225.6(PPP2R1A):c.538A>G (p.Met180Val) rs2122334663
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014225.6(PPP2R1A):c.568G>T (p.Gly190Trp) rs2122335090
NM_014225.6(PPP2R1A):c.61C>T (p.Arg21Cys) rs2514067613
NM_014225.6(PPP2R1A):c.641C>G (p.Ser214Cys) rs1284984038
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.661C>T (p.Arg221Trp) rs1173183954
NM_014225.6(PPP2R1A):c.66T>A (p.Asn22Lys) rs2122267837
NM_014225.6(PPP2R1A):c.689A>T (p.Asn230Ile)
NM_014225.6(PPP2R1A):c.695C>T (p.Ala232Val)
NM_014225.6(PPP2R1A):c.74T>C (p.Val25Ala)
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014225.6(PPP2R1A):c.839A>G (p.Lys280Arg) rs2514094810
NM_014225.6(PPP2R1A):c.864G>T (p.Gln288His) rs2122348542

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