ClinVar Miner

List of variants studied for cystic kidney disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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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.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe) rs1203304646 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_138694.4(PKHD1):c.3907del (p.Val1303fs) rs1581812192
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)

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