ClinVar Miner

List of variants reported as likely pathogenic by Liping Wei Laboratory,Peking University

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Total variants: 24
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HGVS dbSNP
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
NM_000267.3(NF1):c.1721+21dup rs762735676
NM_000314.7(PTEN):c.-116dup rs1564801388
NM_000314.7(PTEN):c.-60dup rs1564801473
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_021008.3(DEAF1):c.664+2T>G rs1564950387
NM_152722.5(HEPACAM):c.803+1G>A rs375712202

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