ClinVar Miner

List of variants in gene LMX1B reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
LMX1B, 1-BP INS, 713A
LMX1B, 17-BP DEL
LMX1B, 2-BP DEL, 233TG
LMX1B, 672, G-A, +1
LMX1B, 672, G-T, +1
LMX1B, DEL
NM_001174146.1(LMX1B):c.305A>G (p.Tyr102Cys) rs1564143881
NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter) rs864621969
NM_002316.3(LMX1B):c.176G>T (p.Cys59Phe) rs1554721879
NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter) rs121909489
NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe) rs121909488
NM_002316.3(LMX1B):c.543del (p.Asp182fs) rs1114167362
NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter) rs121909487
NM_002316.3(LMX1B):c.667del (p.Arg223fs) rs1564169730
NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
NM_002316.3(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698
NM_002316.3(LMX1B):c.741+1G>T rs1427331961
NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys) rs121909486

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