ClinVar Miner

List of variants studied for mismatch repair cancer syndrome 1 by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
MLH1, EX16DEL
MSH6, 4-BP DEL, NT3609
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter) rs587779217
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
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.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106

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