ClinVar Miner

List of variants reported as uncertain significance for cystic kidney disease by Institute of Human Genetics, Cologne University

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu) rs200473249 0.00002
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) rs1430979320 0.00001
NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr) rs1553926080
NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro) rs2110129485
NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro) rs755031837
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly) rs2151826654
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile) rs2092040135
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) rs1965761636
NM_016306.6(DNAJB11):c.456+3A>G rs2108480084
NM_016306.6(DNAJB11):c.800T>C (p.Val267Ala) rs1715573698
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=) rs139815340

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