ClinVar Miner

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

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Gene type:
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Total variants: 44
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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.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) rs376176735 0.00002
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.6517G>A (p.Val2173Ile) rs749619625 0.00001
NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser) rs1383657728 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs) rs2091891993
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val) rs778893944
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met) rs755150845
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup) rs2092591934
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met) rs771669643
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs) rs1334651902
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7704-4G>T rs778212840
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs) rs2092035920

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