ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter) rs766905993
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs) rs1553333598

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