ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.3(MSH6):c.2969T>A (p.Leu990Ter) rs1669533825
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3579dup (p.Leu1194fs) rs1669960668
NM_000179.3(MSH6):c.883A>T (p.Lys295Ter)

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