ClinVar Miner

List of variants reported as pathogenic by Dobyns Lab, Seattle Children's Research Institute

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg) rs1488808726
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr) rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly) rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe) rs1557670520
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_005257.6(GATA6):c.1072del (p.Val358fs) rs1555628863
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) rs387906818
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) rs587777710
NM_005559.3:c.2988_2989delA
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter) rs587777681
NM_005559.4(LAMA1):c.588+2T>G rs587777677
NM_005559.4(LAMA1):c.6345+3G>C rs797045184
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs) rs797045182
NM_005559.4(LAMA1):c.7965-15_7965-3del rs587777678
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_012090.5(MACF1):c.10617+444_15577-288del
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser) rs1563436265
Single allele

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