ClinVar Miner

List of variants reported as likely pathogenic for anterior horn disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys) rs1554082113
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs) rs2151134645
NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys) rs2132323906
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)

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