ClinVar Miner

List of variants reported as uncertain significance for anterior horn disorder by Mendelics

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00091
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly) rs1573152106 0.00001
NM_004960.4(FUS):c.1542-1G>T rs1596914113
NM_015046.6(SETX):c.6848_6851delCAGA

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