ClinVar Miner

List of variants reported as pathogenic for Nail-patella syndrome

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
GRCh37/hg19 9q33.3(chr9:129376720-129463802)
NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del
NM_001174147.2(LMX1B):c.140-37_140-21del
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe) rs1554721879
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) rs121909489
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys) rs1564143881
NM_001174147.2(LMX1B):c.306C>G (p.Tyr102Ter) rs864621969
NM_001174147.2(LMX1B):c.353G>T (p.Cys118Phe) rs121909488
NM_001174147.2(LMX1B):c.543del (p.Asp182fs) rs1114167362
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter) rs121909487
NM_001174147.2(LMX1B):c.667del (p.Arg223fs) rs1564169730
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro) rs1588307152
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.741+1G>A rs1427331961
NM_001174147.2(LMX1B):c.741+1G>T rs1427331961
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) rs1056252582
NM_001174147.2(LMX1B):c.766dup (p.Thr256fs)
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174147.2(LMX1B):c.783dup (p.Val262fs) rs1588307460
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu) rs1588307477
NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe) rs1588307477
NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del) rs1588307486
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys) rs121909486
NM_001174147.2(LMX1B):c.819+1G>A rs1588307501
NM_001174147.2(LMX1B):c.917_926del (p.Met306fs) rs1588309269
NM_001174147.2(LMX1B):c.932del (p.Pro311fs) rs1588309293
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)

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