ClinVar Miner

List of variants reported as pathogenic for anterior horn disorder by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) rs879253865
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038

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