ClinVar Miner

List of variants in gene LMX1B reported as likely pathogenic for Nail-patella syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs) rs1057516196
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr) rs121909488
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) rs121909492
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) rs1588307482
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) rs2030220818
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs) rs1588309277

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