ClinVar Miner

List of variants in gene PKD1 reported as benign by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00388
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00210
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00038
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925

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