ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187 0.00033
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.7734-6C>A rs367564272 0.00020
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys) rs151198392 0.00019
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) rs368467585 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His) rs151160618 0.00006
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) rs374566843 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 0.00004
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn) rs760766190 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met) rs201087689 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.8735C>T (p.Thr2912Ile) rs145175102 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) rs748017071 0.00002
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) rs554956088 0.00002
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu) rs200733734 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg) rs202133636 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.5654C>T (p.Thr1885Ile) rs1391293548 0.00001
NM_138694.4(PKHD1):c.5944G>A (p.Glu1982Lys) rs760283175 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser) rs576001667 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8252G>C (p.Gly2751Ala) rs1441352481 0.00001
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) rs767914998 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=)
NM_138694.4(PKHD1):c.100G>C (p.Gly34Arg)
NM_138694.4(PKHD1):c.10156G>A (p.Gly3386Ser)
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr) rs149486694
NM_138694.4(PKHD1):c.1072G>A (p.Ala358Thr)
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11695_11696inv (p.Gln3899Trp)
NM_138694.4(PKHD1):c.1184_1185delinsCC (p.Asp395Ala)
NM_138694.4(PKHD1):c.12005G>A (p.Gly4002Asp) rs754867540
NM_138694.4(PKHD1):c.12085C>G (p.Gln4029Glu) rs1766305561
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1910A>G (p.Asn637Ser)
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) rs150597050
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2270T>G (p.Ile757Ser) rs2128196372
NM_138694.4(PKHD1):c.2464G>C (p.Asp822His)
NM_138694.4(PKHD1):c.2776C>T (p.Leu926Phe)
NM_138694.4(PKHD1):c.2876C>T (p.Ser959Phe) rs567481772
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) rs957113162
NM_138694.4(PKHD1):c.3112A>G (p.Thr1038Ala)
NM_138694.4(PKHD1):c.3217G>A (p.Val1073Ile)
NM_138694.4(PKHD1):c.3559G>A (p.Gly1187Arg) rs2128152412
NM_138694.4(PKHD1):c.3628+6T>C
NM_138694.4(PKHD1):c.3656T>C (p.Ile1219Thr)
NM_138694.4(PKHD1):c.3692T>C (p.Leu1231Pro) rs1287315659
NM_138694.4(PKHD1):c.3731A>C (p.Glu1244Ala) rs886043209
NM_138694.4(PKHD1):c.4017G>C (p.Glu1339Asp) rs886043210
NM_138694.4(PKHD1):c.4265G>C (p.Arg1422Pro) rs557773345
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5450T>G (p.Val1817Gly)
NM_138694.4(PKHD1):c.5510T>A (p.Leu1837His)
NM_138694.4(PKHD1):c.6512A>G (p.Tyr2171Cys) rs1554132731
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys) rs1315333212
NM_138694.4(PKHD1):c.6866-4T>C rs2127623125
NM_138694.4(PKHD1):c.6890T>G (p.Ile2297Arg) rs777587320
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr) rs774331743
NM_138694.4(PKHD1):c.7672C>T (p.Arg2558Trp)
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln) rs369677008
NM_138694.4(PKHD1):c.8143G>T (p.Val2715Leu)
NM_138694.4(PKHD1):c.8261A>G (p.Asn2754Ser)
NM_138694.4(PKHD1):c.8600delinsGTAAACATCCTAAGAA (p.Ser2867delinsCysLysHisProLysAsn) rs2151138307
NM_138694.4(PKHD1):c.8621A>T (p.Asp2874Val) rs1582601370
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) rs137852945
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.9290C>A (p.Ala3097Glu)
NM_138694.4(PKHD1):c.9383A>C (p.His3128Pro) rs1290111165
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.4(PKHD1):c.985G>A (p.Gly329Arg) rs2128219129
NM_138694.4(PKHD1):c.9962A>G (p.Asp3321Gly) rs2150973795
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563

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