ClinVar Miner

List of variants studied for anterior horn disorder by GenomeConnect, ClinGen

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter) rs763615051 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) rs2034878363
NM_002047.2(GARS1):c.-45C>G rs903029869
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907

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