ClinVar Miner

List of variants reported as not provided for familial cystic renal disease

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg) rs776685236 0.00002
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NC_000001.10:g.(155160963_155162030)delinsAT
NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC
NC_000001.10:g.(155160963_155162030)insC
NC_000001.10:g.(155160963_155162030)insG
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln) rs1578111487
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His) rs724159825
NM_002456.6(MUC1):c.253C>T (p.Gln85Ter) rs773704188
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser) rs2141677149
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro) rs2141675428
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe) rs2141674031
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484

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