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

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)	rs1553408245
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	rs864622153
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)	rs1553414029
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)	rs1553410230
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)	rs1057517552
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)	rs1553331659
NM_000179.3(MSH6):c.3439-2A>G	rs267608098
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)	rs63750119
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)	rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)	rs1553333093
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)	rs1553333370
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)	rs63751319
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	rs267608122
NM_000179.3(MSH6):c.55del (p.Asp19fs)	rs1553408127
NM_000179.3(MSH6):c.741dup (p.Arg248fs)	rs267608041
NM_000179.3(MSH6):c.908dup (p.Met303fs)	rs1057517551

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