ClinVar Miner

List of variants reported as pathogenic for cystic kidney disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) rs1057518906 0.00001
NC_000003.12:g.10133799_10141895del
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) rs1273223177
NM_000297.4(PKD2):c.1857del (p.Phe619fs) rs1720325511
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) rs1553927823
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) rs1057518797
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs) rs2091891993
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs) rs1334651902
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs) rs2092035920
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.5081dup (p.Val1695fs) rs1057518952
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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