ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp) rs750770298 0.00001
NM_001130438.3(SPTAN1):c.6690-17G>A rs1554767335
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe) rs2473976527
NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del) rs1171371205
NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs) rs2473961744
NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys) rs764605841
NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr) rs2108458548
NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala) rs2473970931
NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile) rs2473970934
NM_001967.4(EIF4A2):c.945_947del (p.Ile315del) rs2473975415
NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) rs1600486197
NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser) rs2108407721
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg) rs746178765
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr) rs2116775490

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