ClinVar Miner

List of variants reported as likely pathogenic for anterior horn disorder by Baylor Genetics

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) rs761072755 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_001003800.2(BICD2):c.538G>A (p.Asp180Asn)
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) rs28939680
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)

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