ClinVar Miner

List of variants reported as not provided for cystic kidney disease by GenomeConnect, ClinGen

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
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_003361.4(UMOD):c.1919A>G (p.Gln640Arg) rs776685236 0.00002
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln) rs1578111487
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484

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