ClinVar Miner

List of variants in gene LMX1B studied for Nail-patella-like renal disease

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_001174147.2(LMX1B):c.958G>A (p.Val320Met) rs778847250 0.00003
NM_001174147.2(LMX1B):c.389G>A (p.Arg130Gln) rs750023127 0.00001
NM_001174147.2(LMX1B):c.224C>T (p.Ser75Phe) rs2235058
NM_001174147.2(LMX1B):c.464A>G (p.Glu155Gly)
NM_001174147.2(LMX1B):c.662G>A (p.Arg221Gln)
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro) rs1191455921
NM_001174147.2(LMX1B):c.957del (p.Ile319fs) rs2490695028

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