ClinVar Miner

List of variants reported as likely pathogenic by Bruce Lefroy Centre, Murdoch Childrens Research Institute

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002340.6(LSS):c.857A>G (p.Tyr286Cys) rs987857709 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr) rs772014561 0.00001
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) rs1178007598
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr) rs1971033478
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) rs2059194330
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) rs1555303073
NM_001846.4(COL4A2):c.2902+1G>A rs1882975083
NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg) rs1942172759
NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser) rs1942171146
NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile) rs2145244590
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser) rs1724674149
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_014905.5(GLS):c.866A>T (p.Lys289Ile) rs2124851950
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe) rs201922441

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