ClinVar Miner

List of variants studied for nail-patella syndrome by Pediatric Nephrology Laboratory, The University of Tokyo Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.783dup (p.Val262fs) rs1588307460
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.819+1G>A rs1588307501

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