ClinVar Miner

List of variants in gene LMX1A reported as pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) rs1571177726
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter) rs1396081975
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) rs1571147567

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