ClinVar Miner

List of variants reported as likely benign for Polycystic kidney disease 4 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 0.00005
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.306G>A (p.Glu102=) rs759126073 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser) rs577306911 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln) rs76572975
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879

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