ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by University of Washington Department of Laboratory Medicine, University of Washington

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078

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