ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic by Ambry Genetics

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Total variants: 47
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HGVS dbSNP
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2302_2304delCCT (p.Pro768del) rs63750647
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+1G>C rs1553408467
NM_000179.2(MSH6):c.260+2_260+3delTAinsAG rs1064794075
NM_000179.2(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-1G>A rs397515875
NM_000179.2(MSH6):c.3173-1_3173delGA rs587779256
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3356_3358delAAGinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.2(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.2(MSH6):c.3485_3487delCTG (p.Ala1162del) rs63751427
NM_000179.2(MSH6):c.3556+1delG rs1064793489
NM_000179.2(MSH6):c.3557-1G>C rs1114167723
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.2(MSH6):c.3701_3706dup (p.Leu1235_Ala1236insGluLeu) rs63750523
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3724_3726delCGT (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3802-7_3802-4delTCTT rs876661171
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319Leufs) rs1553333644
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4002-1G>A rs1302369946
NM_000179.2(MSH6):c.628-2A>G rs1114167725

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