ClinVar Miner

List of variants reported as pathogenic for cystic kidney disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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_000297.4(PKD2):c.1320-2del rs1578135823
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
NM_000297.4(PKD2):c.2844del (p.Ser949fs) rs1721205608
NM_000297.4(PKD2):c.316del (p.Glu106fs)
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs) rs2092538008
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs) rs754820795
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) rs753749502
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
NM_001009944.3(PKD1):c.678G>A (p.Glu226=) rs2092673013
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter) rs1581910796

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