List of variants in gene MSH6 reported as pathogenic by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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.2731C>T (p.Arg911Ter)	rs63751017	0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	rs63749999	0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	rs63749873	0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	rs63750955	0.00001
NM_000179.3(MSH6):c.1409C>G (p.Ser470Ter)	rs2104341995
NM_000179.3(MSH6):c.1784del (p.Leu595fs)	rs267608050
NM_000179.3(MSH6):c.1991C>G (p.Ser664Ter)	rs1553413355
NM_000179.3(MSH6):c.2050_2051dup (p.Leu684_Gly685insTer)	rs587779226
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)	rs63750904
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	rs63750563
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3439-1G>T	rs587779263
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)	rs267608101
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)	rs63750139
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	rs267608094

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