ClinVar Miner

List of variants reported as likely pathogenic for polycystic kidney disease by 3billion

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
NM_000297.4(PKD2):c.690del (p.Leu231fs)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser) rs2151798259
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)
NM_001009944.3(PKD1):c.6420del (p.Val2141fs)
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs) rs2151755878
NM_001009944.3(PKD1):c.9202-1G>A rs2151748829
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter) rs2151778258

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