ClinVar Miner

List of variants reported as likely pathogenic by TIDEX, University of British Columbia

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Total variants: 14
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HGVS dbSNP
NM_000100.3(CSTB):c.10G>T (p.Gly4Trp) rs74315443
NM_000159.3(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_001083962.1(TCF4):c.1815_1826del (p.Thr606_Leu609del) rs1555710127
NM_001163435.2(TBCK):c.2060-2A>G rs62321379
NM_002240.4(KCNJ6):c.512T>G (p.Leu171Arg) rs1556023562
NM_003491.3(NAA10):c.361C>G (p.Leu121Val) rs1557107462
NM_004438.4(EPHA4):c.2242G>A (p.Ala748Thr) rs1553568456
NM_005465.4(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_006922.3(SCN3A):c.626T>C (p.Leu209Pro) rs1553537132
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1477G>T (p.Asp493Tyr) rs1060499939
NM_020738.3(KIDINS220):c.4138C>T (p.Gln1380Ter) rs1553305080
NM_025179.3(PLXNA2):c.2206G>A (p.Gly736Ser) rs1553277591
NM_138736.2(GNAO1):c.626G>T (p.Arg209Leu) rs797044878

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