ClinVar Miner

List of variants in gene PPP3CA reported as uncertain significance by GeneDx

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000944.5(PPP3CA):c.1292T>C (p.Met431Thr) rs1727004036 0.00001
NM_000944.5(PPP3CA):c.20T>C (p.Ile7Thr) rs1730017544 0.00001
NM_000944.5(PPP3CA):c.757G>A (p.Val253Ile) rs1450390683 0.00001
NM_000944.5(PPP3CA):c.1005C>G (p.Asn335Lys) rs2476262817
NM_000944.5(PPP3CA):c.1094T>C (p.Leu365Pro) rs2476259292
NM_000944.5(PPP3CA):c.1144G>T (p.Asp382Tyr)
NM_000944.5(PPP3CA):c.1171G>T (p.Ala391Ser) rs2476224529
NM_000944.5(PPP3CA):c.1194C>A (p.Asn398Lys) rs2110210920
NM_000944.5(PPP3CA):c.1242-14_1242-12del rs2476210224
NM_000944.5(PPP3CA):c.1244A>G (p.Glu415Gly)
NM_000944.5(PPP3CA):c.1410C>G (p.Phe470Leu) rs1726631581
NM_000944.5(PPP3CA):c.1411G>A (p.Glu471Lys) rs2476197492
NM_000944.5(PPP3CA):c.1421A>C (p.Lys474Thr) rs2476197467
NM_000944.5(PPP3CA):c.1457G>A (p.Arg486His) rs1296940907
NM_000944.5(PPP3CA):c.1527C>T (p.Gly509=) rs2476197110
NM_000944.5(PPP3CA):c.1550GCA[1] (p.Ser518del) rs2476197000
NM_000944.5(PPP3CA):c.178G>A (p.Val60Ile) rs2476120373
NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met)
NM_000944.5(PPP3CA):c.201G>C (p.Glu67Asp) rs1216354530
NM_000944.5(PPP3CA):c.379A>G (p.Ile127Val)
NM_000944.5(PPP3CA):c.460A>G (p.Arg154Gly)
NM_000944.5(PPP3CA):c.46A>G (p.Arg16Gly)
NM_000944.5(PPP3CA):c.49G>T (p.Val17Leu)
NM_000944.5(PPP3CA):c.521T>C (p.Val174Ala) rs1730298569
NM_000944.5(PPP3CA):c.530C>A (p.Ala177Asp)
NM_000944.5(PPP3CA):c.542C>G (p.Ala181Gly) rs1349802521
NM_000944.5(PPP3CA):c.754A>G (p.Thr252Ala) rs2475915743
NM_000944.5(PPP3CA):c.755C>G (p.Thr252Arg) rs2475915735
NM_000944.5(PPP3CA):c.811C>G (p.His271Asp)
NM_000944.5(PPP3CA):c.856G>A (p.Ala286Thr) rs542649732
NM_000944.5(PPP3CA):c.865C>A (p.Arg289Ser) rs2110239163
NM_000944.5(PPP3CA):c.983T>C (p.Val328Ala)
NM_000944.5(PPP3CA):c.996G>T (p.Arg332Ser)

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