ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.2407+37A>T rs115353478 0.00413
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
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.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522 0.00099
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 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.1119-18C>G rs367960459 0.00053
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653 0.00019
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.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912 0.00017
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) rs142678486 0.00017
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.7911+5C>A rs199953233 0.00012
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=) rs777017196 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.10413C>G (p.Val3471=) rs147440122 0.00007
NM_138694.4(PKHD1):c.171A>G (p.Gln57=) rs543640706 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) rs373244595 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044 0.00006
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=) rs926797825 0.00005
NM_138694.4(PKHD1):c.977-9G>A rs372205619 0.00005
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.779-9C>T rs886038726 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.880+42A>G rs754400707 0.00004
NM_138694.4(PKHD1):c.10350C>T (p.Cys3450=) rs765652131 0.00003
NM_138694.4(PKHD1):c.11506+7T>G rs1204730138 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) rs761543328 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) rs145979687 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.3846T>G (p.Pro1282=) rs760349514 0.00003
NM_138694.4(PKHD1):c.5385C>T (p.Ser1795=) rs772277538 0.00003
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.1803C>T (p.Ala601=) rs150333445 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.5499G>A (p.Ser1833=) rs557919334 0.00002
NM_138694.4(PKHD1):c.6122-13C>T rs757378511 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.6332+22A>G rs372657563 0.00002
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) rs759139294 0.00002
NM_138694.4(PKHD1):c.8313C>T (p.Val2771=) rs368995583 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.978C>G (p.Gly326=) rs759233307 0.00002
NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=) rs776512983 0.00001
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259 0.00001
NM_138694.4(PKHD1):c.11311-8A>G rs201733977 0.00001
NM_138694.4(PKHD1):c.1198T>C (p.Leu400=) rs1582024099 0.00001
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) rs1186724457 0.00001
NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=) rs750988521 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.1964+22G>A rs375534282 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.2979T>C (p.His993=) rs528105052 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3561-47A>G rs754131274 0.00001
NM_138694.4(PKHD1):c.390+26A>G rs377684807 0.00001
NM_138694.4(PKHD1):c.4212G>A (p.Gly1404=) rs751984319 0.00001
NM_138694.4(PKHD1):c.528-9T>A rs765406968 0.00001
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg) rs566044331 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457 0.00001
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) rs766729223 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.6630G>A (p.Gly2210=) rs1199629361 0.00001
NM_138694.4(PKHD1):c.6802C>T (p.Leu2268=) rs758494106 0.00001
NM_138694.4(PKHD1):c.6996+9T>A rs878855203 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.779-7C>G rs749068364 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=) rs1188949424 0.00001
NM_138694.4(PKHD1):c.8532T>A (p.Ile2844=) rs941290574 0.00001
NM_138694.4(PKHD1):c.881-7G>A rs776386120 0.00001
NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=) rs763551387 0.00001
NM_138694.4(PKHD1):c.-17T>C
NM_138694.4(PKHD1):c.10156+22359C>T
NM_138694.4(PKHD1):c.10157-9_10157-5del rs1374480151
NM_138694.4(PKHD1):c.10331T>C (p.Val3444Ala) rs763589152
NM_138694.4(PKHD1):c.10528T>C (p.Leu3510=)
NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=) rs886038724
NM_138694.4(PKHD1):c.10869T>A (p.Pro3623=)
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.1119-16A>G
NM_138694.4(PKHD1):c.1119-9A>G rs1190120876
NM_138694.4(PKHD1):c.11310+5C>T
NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=)
NM_138694.4(PKHD1):c.12054G>A (p.Leu4018=)
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1842T>C (p.Cys614=)
NM_138694.4(PKHD1):c.1875G>T (p.Leu625=) rs886038725
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.2279+6G>A
NM_138694.4(PKHD1):c.264G>A (p.Val88=)
NM_138694.4(PKHD1):c.2821+9T>C rs1581914451
NM_138694.4(PKHD1):c.2822-40G>A rs768953527
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3591A>G (p.Glu1197=) rs1217153511
NM_138694.4(PKHD1):c.4341G>T (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.448+31T>C rs760979377
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5826T>C (p.Asp1942=)
NM_138694.4(PKHD1):c.5841A>C (p.Thr1947=) rs780854942
NM_138694.4(PKHD1):c.5917C>T (p.Leu1973=)
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-5T>A
NM_138694.4(PKHD1):c.6375C>T (p.His2125=)
NM_138694.4(PKHD1):c.6490+4G>A
NM_138694.4(PKHD1):c.666C>T (p.Ile222=)
NM_138694.4(PKHD1):c.7479A>G (p.Gln2493=)
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.7737G>T (p.Ala2579=)
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.813T>C (p.Leu271=)
NM_138694.4(PKHD1):c.8173+16C>T
NM_138694.4(PKHD1):c.8555-9T>C
NM_138694.4(PKHD1):c.8798-468C>T
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.976+8A>G

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