ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) rs376176735 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met) rs1301518884 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val) rs778893944
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met) rs755150845
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup) rs2092591934
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met) rs771669643
NM_001009944.3(PKD1):c.7704-4G>T rs778212840

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