ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic by Color

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Total variants: 24
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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.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3379_3438+5del rs1553331676
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3798_3801+9del rs1553333168
NM_000179.2(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.4002-2A>G rs878853745
NM_000179.2(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.2(MSH6):c.458-1G>A rs267608035
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.3(MSH6):c.3647-1G>C
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-6_4002-1del
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs)
NM_001281492.1(MSH6):c.3609dup (p.Arg1204fs) rs863225418

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