List of variants in gene MLH1 reported as pathogenic for mismatch repair cancer syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
MLH1, EX16DEL
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)	rs121912965
NM_000249.4(MLH1):c.116+1G>A	rs267607709
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	rs63749795
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	rs63751657
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)	rs63750035
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	rs63751247
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	rs63750899
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)	rs397514684
NM_000249.4(MLH1):c.306+5G>A	rs267607735
NM_000249.4(MLH1):c.588+5G>A	rs267607768
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	rs63751615
NM_000249.4(MLH1):c.885-1G>A	rs1553647894

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