ClinVar Miner

List of variants studied for inherited renal tubular disease by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) rs1322871899 0.00001
NC_012920.1(MT-CYB):m.591C>T rs2124590812
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val) rs1867124708
NM_001377.3(DYNC2H1):c.3459-1G>A rs1860730801
NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe) rs770790055
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293

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