ClinVar Miner

List of variants reported as benign for Lynch syndrome by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000251.2(MSH2):c.942+17_942+29delAAAAAAAAAAAAA rs11309117
NM_000251.2(MSH2):c.942+3_942+7delAAAAA rs11309117
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000535.6(PMS2):c.706-5_706-4delTT rs60794673
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-4del rs60794673

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