ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro) rs1251033858
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3438+1G>A rs267608096
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3646_3646+3del rs267608106
NM_000179.3(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.3(MSH6):c.458-1G>A rs267608035

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