ClinVar Miner

Variants in gene MSH6 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 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.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu) rs761822293
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019

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