ClinVar Miner

List of variants studied for Lynch syndrome 5 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00011
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483 0.00005
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00005
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile) rs373418713 0.00003
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln) rs542848931 0.00003
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu) rs1361745058 0.00001
NM_000179.3(MSH6):c.2385A>G (p.Ile795Met) rs1558665293 0.00001
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp) rs780485157 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly) rs150632241 0.00001
NM_000179.3(MSH6):c.772A>G (p.Ile258Val) rs786202565 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000179.3(MSH6):c.1111G>C (p.Glu371Gln) rs1336187952
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1666T>C (p.Tyr556His) rs1060502895
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.2355T>A (p.His785Gln) rs1060502942
NM_000179.3(MSH6):c.261-6C>G rs1558651835
NM_000179.3(MSH6):c.2983G>A (p.Glu995Lys) rs63750258
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln) rs1553331600
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe) rs762134820
NM_000179.3(MSH6):c.382C>T (p.Arg128Cys) rs1251938412
NM_000179.3(MSH6):c.439C>T (p.Leu147Phe) rs2104111618
NM_000179.3(MSH6):c.503C>T (p.Ala168Val) rs774162322
NM_000179.3(MSH6):c.85C>G (p.Arg29Gly) rs756589186

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