ClinVar Miner

List of variants studied for Mismatch repair cancer syndrome 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000535.7(PMS2):c.2445+14G>T rs913201632 0.00010
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00003
NM_000535.7(PMS2):c.706-4T>C rs769605987 0.00003
NM_000535.7(PMS2):c.537+6G>A rs1358613918 0.00002
NM_000249.4(MLH1):c.450C>T (p.Ile150=) rs950640785 0.00001
NM_000249.4(MLH1):c.534A>G (p.Glu178=) rs786202121 0.00001
NM_000249.4(MLH1):c.969G>C (p.Leu323=) rs1553648063 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148 0.00001
NM_000535.7(PMS2):c.989-5C>T rs1401221727 0.00001
NM_000535.7(PMS2):c.-7T>A
NM_000535.7(PMS2):c.-93G>C
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1145-31_1145-13del rs751973268
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.2006+20C>G rs1554297036
NM_000535.7(PMS2):c.2007-11dup rs1554295996
NM_000535.7(PMS2):c.2275+10T>C
NM_000535.7(PMS2):c.23+3G>C rs1408475000
NM_000535.7(PMS2):c.250+1G>C rs1785410333
NM_000535.7(PMS2):c.354-12A>G rs1554304135
NM_000535.7(PMS2):c.538-1_903+1del
NM_000535.7(PMS2):c.538-20_803+19dup
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.988+3A>G rs751329878

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