ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by Natera, Inc.

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
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.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
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.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) rs144905283 0.00039
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295 0.00027
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138694.4(PKHD1):c.10797C>T (p.His3599=) rs577357613 0.00012
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.8107+8T>G rs368339881 0.00011
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly) rs767229742 0.00006
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) rs373244595 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.9629C>G (p.Ser3210Cys) rs141081295 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.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=) rs770933024 0.00004
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=) rs763641339 0.00004
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=) rs140036742 0.00004
NM_138694.4(PKHD1):c.75T>C (p.Ile25=) rs138600204 0.00004
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=) rs368081890 0.00003
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) rs761543328 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu) rs760893545 0.00003
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=) rs753727582 0.00003
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=) rs1473205243 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=) rs766225439 0.00002
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=) rs767936065 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=) rs746417768 0.00002
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) rs759139294 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=) rs1466831280 0.00001
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=) rs754777157 0.00001
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=) rs547420174 0.00001
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=) rs1581731432 0.00001
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783 0.00001
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) rs1186724457 0.00001
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=) rs749293235 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2802T>C (p.His934=) rs1046496759 0.00001
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=) rs745329565 0.00001
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282 0.00001
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=) rs768475335 0.00001
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=) rs765696714 0.00001
NM_138694.4(PKHD1):c.381T>C (p.Cys127=) rs755926109 0.00001
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=) rs1581812316 0.00001
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=) rs1348053835 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=) rs1050674532 0.00001
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=) rs755566688 0.00001
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=) rs1337056978 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=) rs199747902 0.00001
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) rs766729223 0.00001
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=) rs756262878 0.00001
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=) rs749198425 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=) rs950565294 0.00001
NM_138694.4(PKHD1):c.8679T>C (p.His2893=) rs1229318498 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) rs1349645712
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=) rs763463216
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=) rs958665190
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=) rs1766324047
NM_138694.4(PKHD1):c.15G>A (p.Leu5=) rs1812540624
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=) rs200592905
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=) rs1468634187
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=) rs2128207463
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=) rs751853495
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.279C>G (p.Thr93=) rs1052073195
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=) rs1272367929
NM_138694.4(PKHD1):c.3432C>T (p.His1144=) rs376881116
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=) rs2128145709
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=) rs757243486
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=) rs754565280
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=) rs2128144470
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=) rs2128143441
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=) rs955588679
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=) rs1399100600
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=) rs764470314
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=) rs893003949
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9384T>C (p.His3128=) rs2150984309
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=) rs1785490409
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) rs758820099

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