ClinVar Miner

List of variants in gene PKD1 reported by Mendelics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96687
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00019
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) rs2151710316
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) rs2151701971
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.12004-7_12012dup rs1596475487
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp) rs142768096
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1722+1G>T rs1567214706
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.330del (p.Phe111fs) rs2151826084
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs) rs1596561773
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter) rs752948922
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp) rs1302127440
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599

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