List of variants in gene MSH6 reported as pathogenic for Carcinoma of colon

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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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.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	rs63750909	0.00001
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)	rs1230092559	0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	rs63751017	0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	rs63751327	0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	rs63750767	0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	rs63749873	0.00001
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)	rs730881815
NM_000179.3(MSH6):c.1089dup (p.Val364fs)	rs2104318953
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)	rs267608055
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	rs587779212
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)	rs1553412966
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)	rs1669384406
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)	rs863225401
NM_000179.3(MSH6):c.1982del (p.Gly661fs)	rs2104380327
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)	rs63750075
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	rs267608058
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)	rs1553413693
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)	rs587779243
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)	rs1553414010
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	rs587779246
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)	rs587782712
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)	rs878853729
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)	rs587779259
NM_000179.3(MSH6):c.3439-2A>G	rs267608098
NM_000179.3(MSH6):c.3439-2_3556+1del	rs2104503689
NM_000179.3(MSH6):c.3554_3556+2del	rs2104510085
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)	rs1057517764
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)	rs1553333421
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)	rs2104556388
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)	rs1553333584
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)	rs1553333598
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)	rs1416452389
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)	rs1668698146
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)	rs587779297
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	rs267608120
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	rs1553333738
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	rs267608121
NM_000179.3(MSH6):c.457+1G>T	rs2104112957
NM_000179.3(MSH6):c.458-2_627+1del	rs2104227755
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	rs63750019

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