ClinVar Miner

List of variants in gene PPP1R3A studied for Monogenic diabetes

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002711.4(PPP1R3A):c.1880G>A (p.Arg627Lys) rs35067467 0.03347
NM_002711.4(PPP1R3A):c.2649G>T (p.Arg883Ser) rs1800000 0.02352
NM_002711.4(PPP1R3A):c.1183T>G (p.Ser395Ala) rs62001864 0.01000
NM_002711.4(PPP1R3A):c.1835G>A (p.Gly612Glu) rs76910192 0.00825
NM_002711.4(PPP1R3A):c.1714A>G (p.Ile572Val) rs35398707 0.00796
NM_002711.4(PPP1R3A):c.3259A>G (p.Ile1087Val) rs77456357 0.00795
NM_002711.4(PPP1R3A):c.3044A>G (p.Asn1015Ser) rs149701175 0.00793
NM_002711.4(PPP1R3A):c.133G>A (p.Gly45Ser) rs8192687 0.00595
NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys) rs61756423 0.00493
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser) rs115322623 0.00194
NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu) rs151310594 0.00173
NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys) rs35572169 0.00154
NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala) rs138812345 0.00111
NM_002711.4(PPP1R3A):c.628C>T (p.Arg210Cys) rs141223649 0.00102
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp) rs148408134 0.00090
NM_002711.4(PPP1R3A):c.297C>A (p.Phe99Leu) rs115949425 0.00033
NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg) rs139484221 0.00026
NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr) rs138771673 0.00021
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys) rs374950521 0.00019
NM_002711.4(PPP1R3A):c.1040T>C (p.Val347Ala) rs372606055 0.00008
NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val) rs772082412 0.00004
NM_002711.4(PPP1R3A):c.1824C>A (p.Ser608Arg) rs767098711
NM_002711.4(PPP1R3A):c.2990T>C (p.Phe997Ser) rs35572169
NM_002711.4(PPP1R3A):c.416C>G (p.Ser139Cys) rs1057524893

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