ClinVar Miner

List of variants reported as likely pathogenic by Sema4,Sema4

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Total variants: 8
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HGVS dbSNP
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001369.2(DNAH5):c.3660del (p.Cys1221fs) rs1561476089
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330

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