ClinVar Miner

List of variants in gene LMX1B reported as likely pathogenic for not provided

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_129453095)_(129453367_?)dup
NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly) rs1057520783
NM_001174147.2(LMX1B):c.256T>A (p.Cys86Ser)
NM_001174147.2(LMX1B):c.257G>A (p.Cys86Tyr) rs1554721897
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys) rs1564143881
NM_001174147.2(LMX1B):c.317A>C (p.Asp106Ala)
NM_001174147.2(LMX1B):c.323_326+8del rs2118823917
NM_001174147.2(LMX1B):c.419G>A (p.Cys140Tyr) rs2118986952
NM_001174147.2(LMX1B):c.428G>C (p.Cys143Ser) rs2118986969
NM_001174147.2(LMX1B):c.688C>A (p.Gln230Lys) rs2118991973
NM_001174147.2(LMX1B):c.770dup (p.Leu258fs)
NM_001174147.2(LMX1B):c.782G>T (p.Arg261Leu) rs1161738395
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001174147.2(LMX1B):c.812G>C (p.Arg271Thr)

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