ClinVar Miner

List of variants studied for Polycystic kidney disease 4 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01112
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01013
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01004
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00758
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00628
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00329
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00159
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00109
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00054
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00032
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00020
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His) rs372357820 0.00011
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063 0.00011
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00008
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=) rs755526540 0.00007
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00007
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326 0.00006
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00005
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) rs757627773 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr) rs548244367 0.00003
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275 0.00003
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) rs145979687 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn) rs200244173 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu) rs200733734 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00002
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly) rs1323710410 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=) rs763641339 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg) rs1229139298 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00001
NM_138694.4(PKHD1):c.5885T>A (p.Ile1962Asn) rs756573585 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln) rs774380534 0.00001
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser) rs747745685 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.792G>C (p.Val264=) rs1309154859 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.-74A>C
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg) rs747753565
NM_138694.4(PKHD1):c.103G>A (p.Gly35Arg)
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.1124G>C (p.Arg375Pro)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.2351C>G (p.Thr784Arg)
NM_138694.4(PKHD1):c.3085G>C (p.Ala1029Pro)
NM_138694.4(PKHD1):c.3228+2T>C
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4510A>T (p.Ile1504Phe)
NM_138694.4(PKHD1):c.4655T>A (p.Val1552Asp)
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4676A>G (p.Tyr1559Cys)
NM_138694.4(PKHD1):c.4706T>G (p.Phe1569Cys)
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.4855G>A (p.Gly1619Ser)
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5261A>G (p.His1754Arg)
NM_138694.4(PKHD1):c.5380+5G>T
NM_138694.4(PKHD1):c.5598C>G (p.Ile1866Met)
NM_138694.4(PKHD1):c.6104G>T (p.Gly2035Val)
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro) rs777228780
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6359G>A (p.Trp2120Ter)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7734-14dup
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.824C>G (p.Thr275Arg)
NM_138694.4(PKHD1):c.8302+12T>C
NM_138694.4(PKHD1):c.8675C>T (p.Pro2892Leu)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9931G>A (p.Ala3311Thr)

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