ClinVar Miner

List of variants reported as pathogenic by Human Developmental Genetics, Institut Pasteur

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.679A>G (p.Thr227Ala) rs1318050831 0.00001
NM_001378964.1(CDON):c.2764G>A (p.Glu922Lys) rs769676286 0.00001
NC_000024.10:g.2792795A>G
NC_000024.10:g.2792798G>A
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2507T>G (p.Ile836Ser) rs2076141961
NM_000044.6(AR):c.2528T>C (p.Ile843Thr) rs9332970
NM_000044.6(AR):c.2607+2T>G rs2147538369
NM_000044.6(AR):c.2657A>T (p.His886Leu) rs2147540378
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) rs2040090895
NM_001127222.2(CACNA1A):c.655A>G (p.Ile219Val) rs2059190992
NM_001130969.3(NSMF):c.53C>A (p.Ser18Ter) rs1831038541
NM_002941.4(ROBO1):c.2929del (p.Ala977fs) rs1705825067
NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter) rs1439248218
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_004959.5(NR5A1):c.104G>A (p.Gly35Asp) rs2131289833
NM_004959.5(NR5A1):c.1223A>C (p.His408Pro) rs2131269262
NM_004959.5(NR5A1):c.218G>A (p.Cys73Tyr) rs2131289726
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) rs1832493257
NM_004959.5(NR5A1):c.244+1G>T rs2131289685
NM_024426.6(WT1):c.250C>T (p.Leu84=) rs756055892
NM_024426.6(WT1):c.278G>C (p.Gly93Ala) rs1590410578

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