ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.3(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_001354629.1(MLH1):c.208-3445_208-3433del rs1057517543

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