ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease, adult type by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.3029A>G (p.Asn1010Ser) rs149041162 0.00003
NM_001009944.3(PKD1):c.8920C>T (p.Arg2974Trp) rs536893844 0.00002
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser) rs776847358 0.00001
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met) rs1301518884 0.00001
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del) rs2092489106
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly) rs1596553257
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.7005G>C (p.Glu2335Asp) rs2092401473
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
NM_001009944.3(PKD1):c.8378T>A (p.Leu2793Gln) rs2151755543
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys) rs1596526681
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val) rs2151742081
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)

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