ClinVar Miner

List of variants studied for anterior horn disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) rs753892865 0.00002
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) rs752784218 0.00001
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys) rs778752793
NM_015046.7(SETX):c.5065A>T (p.Asn1689Tyr) rs2131426426
NM_145868.2(ANXA11):c.607del (p.Leu203fs)
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419

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