ClinVar Miner

List of variants reported as uncertain significance for anterior horn disorder by MGZ Medical Genetics Center

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)
NM_001003800.2(BICD2):c.91C>T (p.His31Tyr) rs1554709923
NM_001122955.4(BSCL2):c.259C>T (p.Arg87Cys)
NM_001122955.4(BSCL2):c.935T>C (p.Val312Ala)
NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)
NM_002047.4(GARS1):c.977T>C (p.Ile326Thr)
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_004184.4(WARS1):c.841C>T (p.Pro281Ser)
NM_004960.4(FUS):c.636C>A (p.Asp212Glu)
NM_014845.6(FIG4):c.2509C>T (p.Gln837Ter)
NM_014845.6(FIG4):c.670C>T (p.Pro224Ser)
NM_015046.7(SETX):c.4559T>C (p.Ile1520Thr)
NM_015046.7(SETX):c.5693G>A (p.Ser1898Asn)
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
NM_205836.3(FBXO38):c.801A>T (p.Leu267Phe)
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)

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