ClinVar Miner

List of variants in gene MSH3 reported as uncertain significance for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_002439.5(MSH3):c.2480A>G (p.His827Arg) rs138339194 0.00191
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met) rs139593361 0.00046
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys) rs35009542 0.00032
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu) rs373436584 0.00028
NM_002439.5(MSH3):c.2336G>A (p.Arg779His) rs199791286 0.00013
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly) rs746782115 0.00012
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu) rs149350323 0.00010
NM_002439.5(MSH3):c.2695A>G (p.Met899Val) rs756956247 0.00007
NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln) rs776668872 0.00003
NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln) rs372048303 0.00003
NM_002439.5(MSH3):c.1261C>G (p.Leu421Val) rs750697976 0.00001
NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys) rs963234468 0.00001
NM_002439.5(MSH3):c.1453+5A>C rs1743273324 0.00001
NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln) rs764832633 0.00001
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg) rs555670202 0.00001
NM_002439.5(MSH3):c.3341A>G (p.His1114Arg) rs1158289237 0.00001
NM_002439.5(MSH3):c.884G>A (p.Arg295His) rs771713082 0.00001
NM_002439.5(MSH3):c.1028-1A>T rs1008382885
NM_002439.5(MSH3):c.1070A>T (p.Asp357Val)
NM_002439.5(MSH3):c.1426T>C (p.Tyr476His) rs758556156
NM_002439.5(MSH3):c.2014A>G (p.Ile672Val) rs1744152742
NM_002439.5(MSH3):c.2218C>T (p.Pro740Ser) rs931950562
NM_002439.5(MSH3):c.2318+5del rs779491624
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg) rs777054839
NM_002439.5(MSH3):c.2735T>G (p.Ile912Ser) rs1580066484
NM_002439.5(MSH3):c.2914G>T (p.Val972Phe) rs2112106493
NM_002439.5(MSH3):c.3382A>G (p.Met1128Val) rs1221498955
NM_002439.5(MSH3):c.398C>G (p.Ser133Cys)

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