List of variants in gene MSH6 reported as pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)	rs587782277	0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	rs63749999	0.00001
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	rs63750439
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)	rs1669391378
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)	rs63750940
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)	rs63750111
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	rs63750258
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	rs63750563
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)	rs1384780420
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)	rs1060502891
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)	rs63750194
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	rs267608121
NM_000179.3(MSH6):c.900dup (p.Lys301fs)	rs863225421

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