ClinVar Miner

List of variants reported as pathogenic by Gene Discovery Core-Manton Center, Boston Children's Hospital

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_001829.4(CLCN3):c.1238C>T (p.Ala413Val) rs1190062987 0.00001
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter) rs370244148 0.00001
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs) rs2151690905
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001829.4(CLCN3):c.1357A>C (p.Ser453Arg) rs201059509
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr) rs2150267036
NM_001829.4(CLCN3):c.2315T>C (p.Val772Ala) rs2150274994
NM_001829.4(CLCN3):c.254A>G (p.Tyr85Cys) rs2150238934
NM_001829.4(CLCN3):c.336_339del (p.Lys112fs) rs2150246636
NM_001829.4(CLCN3):c.971T>C (p.Val324Ala) rs2150254146
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs) rs1598413570
NM_003737.4(DCHS1):c.1964del (p.Phe655fs) rs2134634960
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) rs1057516211
NM_004991.4(MECOM):c.2849G>C (p.Arg950Thr) rs2148947240
NM_005772.5(RCL1):c.370C>T (p.Gln124Ter) rs1816786087
NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) rs1580027036
NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) rs768643552
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) rs2145372935
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) rs772489337
NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly) rs2085184370
NM_031448.6(C19orf12):c.182dup (p.Leu61fs) rs2145623001
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del) rs2108372267
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924

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