ClinVar Miner

List of variants in gene PLD1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_002662.5(PLD1):c.2667A>C (p.Val889=) rs9881788 0.52060
NM_002662.5(PLD1):c.1997-202G>A rs9869289 0.51943
NM_002662.5(PLD1):c.1884T>C (p.Arg628=) rs2124147 0.51942
NM_002662.5(PLD1):c.3001-222A>G rs6781853 0.51860
NM_002662.5(PLD1):c.1540-10T>A rs2305547 0.51483
NM_002662.5(PLD1):c.1540-50C>T rs2305548 0.46080
NM_002662.5(PLD1):c.2230-214C>T rs3774039 0.44894
NM_002662.5(PLD1):c.1996+331C>T rs2276793 0.41275
NM_002662.5(PLD1):c.665+201G>C rs4131284 0.38159
NM_002662.5(PLD1):c.540+256T>C rs4894504 0.37856
NM_002662.5(PLD1):c.666-57G>A rs7647840 0.37490
NM_002662.5(PLD1):c.607-89A>T rs4131283 0.37485
NM_002662.5(PLD1):c.666-173del rs10710862 0.37463
NM_002662.5(PLD1):c.758+99A>C rs73879819 0.37461
NM_002662.5(PLD1):c.1062-133C>A rs1869648 0.32981
NM_002662.5(PLD1):c.3000+215A>G rs2287577 0.29657
NM_002662.5(PLD1):c.1228-325G>A rs4894728 0.23367
NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser) rs2290480 0.17465
NM_002662.5(PLD1):c.2340+313C>T rs75563749 0.17331
NM_002662.5(PLD1):c.2883-99A>G rs2287578 0.16937
NM_002662.5(PLD1):c.288+134A>G rs6794454 0.13587
NM_002662.5(PLD1):c.540+252A>G rs9851447 0.13576
NM_002662.5(PLD1):c.540+10T>C rs9869368 0.13568
NM_002662.5(PLD1):c.666-196C>T rs9882641 0.13457
NM_002662.5(PLD1):c.1228-257G>C rs9871396 0.06511
NM_002662.5(PLD1):c.1228-294C>G rs9871708 0.06401
NM_002662.5(PLD1):c.3186G>A (p.Gly1062=) rs6766336 0.05081
NM_002662.5(PLD1):c.2883-187G>A rs9838510 0.05071
NM_002662.5(PLD1):c.1339-154G>A rs13321633 0.04528
NM_002662.5(PLD1):c.*262A>G rs73038024 0.04347
NM_002662.5(PLD1):c.912-82G>A rs57585971 0.04053
NM_002662.5(PLD1):c.1996+76A>G rs62281875 0.03922
NM_002662.5(PLD1):c.2882+88A>G rs77851303 0.03857
NM_002662.5(PLD1):c.2882+93A>G rs57922951 0.03706
NM_002662.5(PLD1):c.2430-118C>T rs114900103 0.03693
NM_002662.5(PLD1):c.665+73C>T rs114497669 0.03646
NM_002662.5(PLD1):c.607-113T>A rs60441473 0.03566
NM_002662.5(PLD1):c.1996+33T>C rs79908651 0.03391
NM_002662.5(PLD1):c.912-46A>G rs75728050 0.03373
NM_002662.5(PLD1):c.289-224C>T rs74324223 0.03312
NM_002662.5(PLD1):c.30T>C (p.Asn10=) rs35127978 0.01187
NM_002662.5(PLD1):c.141C>T (p.Ser47=) rs146060699 0.01077
NM_002662.5(PLD1):c.3084A>G (p.Glu1028=) rs75970900 0.01032
NM_002662.5(PLD1):c.2289C>T (p.His763=) rs9821754 0.00734
NM_002662.5(PLD1):c.2458G>A (p.Val820Met) rs2287579 0.00703
NM_002662.5(PLD1):c.145C>G (p.Pro49Ala) rs9819927 0.00656
NM_002662.5(PLD1):c.3070G>A (p.Val1024Ile) rs9827333 0.00602
NM_002662.5(PLD1):c.1365A>G (p.Ser455=) rs139677913 0.00481
NM_002662.5(PLD1):c.1534C>T (p.Leu512Phe) rs147422973 0.00391
NM_002662.5(PLD1):c.1192C>T (p.Arg398Cys) rs143845082 0.00379
NM_002662.5(PLD1):c.1541C>T (p.Pro514Leu) rs137972331 0.00340
NM_002662.5(PLD1):c.494G>A (p.Arg165His) rs148972595 0.00278
NM_002662.5(PLD1):c.1996+14T>C rs200966333 0.00251
NM_002662.5(PLD1):c.2374G>C (p.Val792Leu) rs146759449 0.00232
NM_002662.5(PLD1):c.1220G>A (p.Arg407Gln) rs141850987 0.00152
NM_002662.5(PLD1):c.2729-14G>C rs181714663 0.00152
NM_002662.5(PLD1):c.868G>C (p.Glu290Gln) rs142070781 0.00137
NM_002662.5(PLD1):c.103T>C (p.Phe35Leu) rs149184731 0.00135
NM_002662.5(PLD1):c.269G>A (p.Arg90His) rs149506327 0.00101
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys) rs149535568 0.00100
NM_002662.5(PLD1):c.2569A>G (p.Ile857Val) rs143219477 0.00062
NM_002662.5(PLD1):c.1997-7C>T rs186706897 0.00060
NM_002662.5(PLD1):c.1859C>T (p.Pro620Leu) rs140003741 0.00048
NM_002662.5(PLD1):c.2681A>C (p.Tyr894Ser) rs191205035 0.00044
NM_002662.5(PLD1):c.3052G>A (p.Asp1018Asn) rs140678011 0.00034
NM_002662.5(PLD1):c.2594-14T>G rs200139052 0.00032
NM_002662.5(PLD1):c.1716C>T (p.His572=) rs146264662 0.00029
NM_002662.5(PLD1):c.456C>G (p.Asn152Lys) rs376280389 0.00026
NM_002662.5(PLD1):c.1868-20G>C rs200456901 0.00024
NM_002662.5(PLD1):c.622A>T (p.Ile208Leu) rs201760337 0.00024
NM_002662.5(PLD1):c.1658A>G (p.Lys553Arg) rs183029835 0.00018
NM_002662.5(PLD1):c.2391A>G (p.Ile797Met) rs140049612 0.00011
NM_002662.5(PLD1):c.2576G>A (p.Gly859Glu) rs186118100 0.00009
NM_002662.5(PLD1):c.1352C>T (p.Pro451Leu) rs141086000 0.00008
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) rs556433569 0.00007
NM_002662.5(PLD1):c.804C>T (p.Asp268=) rs138256899 0.00006
NM_002662.5(PLD1):c.1982A>T (p.Asp661Val) rs762462912 0.00005
NM_002662.5(PLD1):c.2620T>G (p.Ser874Ala) rs375020903 0.00005
NM_002662.5(PLD1):c.1404C>T (p.Val468=) rs374436413 0.00004
NM_002662.5(PLD1):c.2098C>T (p.Arg700Cys) rs201247680 0.00004
NM_002662.5(PLD1):c.1228-8T>C rs375751896 0.00003
NM_002662.5(PLD1):c.2146T>C (p.Tyr716His) rs764435107 0.00002
NM_002662.5(PLD1):c.2452T>C (p.Tyr818His) rs774873976 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_002662.5(PLD1):c.2864T>C (p.Leu955Pro) rs376692638 0.00002
NM_002662.5(PLD1):c.1238T>C (p.Val413Ala) rs974458049 0.00001
NM_002662.5(PLD1):c.1456A>C (p.Arg486=) rs983177669 0.00001
NM_002662.5(PLD1):c.1683T>C (p.Ser561=) rs139390007 0.00001
NM_002662.5(PLD1):c.1754-4C>G rs758878747 0.00001
NM_002662.5(PLD1):c.1937G>C (p.Gly646Ala) rs184673734 0.00001
NM_002662.5(PLD1):c.2430-1G>A rs760657350 0.00001
NM_002662.5(PLD1):c.2547C>T (p.Thr849=) rs762230796 0.00001
NM_002662.5(PLD1):c.547C>T (p.Leu183=) rs775212285 0.00001
NM_002662.5(PLD1):c.971A>C (p.Glu324Ala) rs138886146 0.00001
GRCh37/hg19 3q26.31(chr3:171377240-171419918)x3
NC_000003.11:g.(?_171320868)_(171360699_?)del
NC_000003.11:g.(?_171376983)_(171410252_?)del
NC_000003.11:g.(?_171376983)_(171417636_?)dup
NM_002662.5(PLD1):c.1078G>A (p.Gly360Arg)
NM_002662.5(PLD1):c.1107G>C (p.Met369Ile)
NM_002662.5(PLD1):c.1145+8T>C
NM_002662.5(PLD1):c.1146-16G>A rs191988004
NM_002662.5(PLD1):c.1146-16G>C rs191988004
NM_002662.5(PLD1):c.1146-228GA[13] rs112036117
NM_002662.5(PLD1):c.1146-7G>T
NM_002662.5(PLD1):c.1228-7G>T
NM_002662.5(PLD1):c.1244T>A (p.Ile415Asn)
NM_002662.5(PLD1):c.1276_1279del (p.Ala426fs)
NM_002662.5(PLD1):c.1319G>C (p.Arg440Pro) rs146936145
NM_002662.5(PLD1):c.1388A>G (p.His463Arg) rs2108512237
NM_002662.5(PLD1):c.1416del (p.Gln472fs) rs754297172
NM_002662.5(PLD1):c.1419G>T (p.Ser473=)
NM_002662.5(PLD1):c.1436G>T (p.Gly479Val)
NM_002662.5(PLD1):c.1446G>A (p.Leu482=)
NM_002662.5(PLD1):c.1484_1485del (p.Thr495fs) rs778311238
NM_002662.5(PLD1):c.1504C>T (p.Arg502Trp)
NM_002662.5(PLD1):c.1539+14A>G
NM_002662.5(PLD1):c.1540-19A>T
NM_002662.5(PLD1):c.1540-20T>A
NM_002662.5(PLD1):c.1545C>T (p.Ala515=)
NM_002662.5(PLD1):c.1564T>A (p.Ser522Thr)
NM_002662.5(PLD1):c.15C>T (p.Asn5=)
NM_002662.5(PLD1):c.160+8C>T
NM_002662.5(PLD1):c.161-17_161-14del
NM_002662.5(PLD1):c.161-3del rs71178233
NM_002662.5(PLD1):c.161-3dup
NM_002662.5(PLD1):c.1669T>G (p.Phe557Val)
NM_002662.5(PLD1):c.1708C>T (p.His570Tyr)
NM_002662.5(PLD1):c.1753+1G>A rs2108509028
NM_002662.5(PLD1):c.1861C>A (p.His621Asn)
NM_002662.5(PLD1):c.1868-14T>C
NM_002662.5(PLD1):c.1883_1884inv (p.Arg628His)
NM_002662.5(PLD1):c.1923C>T (p.Thr641=)
NM_002662.5(PLD1):c.1957G>A (p.Val653Ile)
NM_002662.5(PLD1):c.1978C>T (p.Leu660Phe)
NM_002662.5(PLD1):c.1981G>C (p.Asp661His) rs1713515796
NM_002662.5(PLD1):c.1990T>C (p.Phe664Leu) rs1442508464
NM_002662.5(PLD1):c.2002A>T (p.Ile668Phe)
NM_002662.5(PLD1):c.2024G>A (p.Arg675Gln)
NM_002662.5(PLD1):c.2066C>T (p.Ala689Val)
NM_002662.5(PLD1):c.2083C>T (p.Arg695Cys)
NM_002662.5(PLD1):c.2084G>A (p.Arg695His)
NM_002662.5(PLD1):c.2106C>A (p.Asn702Lys)
NM_002662.5(PLD1):c.2115+13T>C
NM_002662.5(PLD1):c.2115+173del rs3214830
NM_002662.5(PLD1):c.2150C>T (p.Pro717Leu)
NM_002662.5(PLD1):c.2178del (p.Ala727fs)
NM_002662.5(PLD1):c.2225T>G (p.Val742Gly)
NM_002662.5(PLD1):c.2236C>T (p.Arg746Cys)
NM_002662.5(PLD1):c.2248G>A (p.Asp750Asn) rs2108438562
NM_002662.5(PLD1):c.2292C>T (p.Ala764=)
NM_002662.5(PLD1):c.2316C>T (p.Asn772=)
NM_002662.5(PLD1):c.2340+14A>G
NM_002662.5(PLD1):c.2341-150T>A rs1378242
NM_002662.5(PLD1):c.2348T>A (p.Phe783Tyr)
NM_002662.5(PLD1):c.2416del (p.Ile805_Leu806insTer)
NM_002662.5(PLD1):c.2430-164T>C rs360399
NM_002662.5(PLD1):c.2430-4G>T
NM_002662.5(PLD1):c.2436C>G (p.Asn812Lys)
NM_002662.5(PLD1):c.2439G>A (p.Gln813=) rs1578176996
NM_002662.5(PLD1):c.2451A>G (p.Val817=)
NM_002662.5(PLD1):c.2500G>A (p.Gly834Ser)
NM_002662.5(PLD1):c.2543+16A>G
NM_002662.5(PLD1):c.2544-253C>A rs9290422
NM_002662.5(PLD1):c.2544-8A>G
NM_002662.5(PLD1):c.2593+1G>A
NM_002662.5(PLD1):c.2681A>G (p.Tyr894Cys)
NM_002662.5(PLD1):c.2715C>G (p.Asn905Lys)
NM_002662.5(PLD1):c.2729-11dup
NM_002662.5(PLD1):c.2750G>A (p.Arg917His)
NM_002662.5(PLD1):c.2768G>A (p.Arg923His)
NM_002662.5(PLD1):c.2832A>G (p.Lys944=)
NM_002662.5(PLD1):c.2852T>A (p.Phe951Tyr) rs536513156
NM_002662.5(PLD1):c.2867G>A (p.Arg956Gln)
NM_002662.5(PLD1):c.288+5G>C
NM_002662.5(PLD1):c.288+9G>A rs775215861
NM_002662.5(PLD1):c.2882+8C>T
NM_002662.5(PLD1):c.2890C>T (p.Leu964Phe)
NM_002662.5(PLD1):c.2958G>C (p.Val986=)
NM_002662.5(PLD1):c.2968A>G (p.Thr990Ala)
NM_002662.5(PLD1):c.2978G>A (p.Arg993Gln)
NM_002662.5(PLD1):c.3009G>A (p.Arg1003=)
NM_002662.5(PLD1):c.3036T>C (p.Asn1012=)
NM_002662.5(PLD1):c.3082G>A (p.Glu1028Lys)
NM_002662.5(PLD1):c.3094C>T (p.Arg1032Ter)
NM_002662.5(PLD1):c.3125G>T (p.Gly1042Val) rs756297631
NM_002662.5(PLD1):c.3141C>G (p.Phe1047Leu)
NM_002662.5(PLD1):c.385G>A (p.Glu129Lys)
NM_002662.5(PLD1):c.472C>T (p.Arg158Ter)
NM_002662.5(PLD1):c.528C>T (p.Phe176=)
NM_002662.5(PLD1):c.540+219C>A rs4894760
NM_002662.5(PLD1):c.607-2A>C rs2108242515
NM_002662.5(PLD1):c.623T>C (p.Ile208Thr)
NM_002662.5(PLD1):c.665+211C>T rs4131285
NM_002662.5(PLD1):c.666-16T>A
NM_002662.5(PLD1):c.666-20T>A
NM_002662.5(PLD1):c.758+195G>A rs73879818
NM_002662.5(PLD1):c.758+9T>G
NM_002662.5(PLD1):c.764T>C (p.Leu255Ser)
NM_002662.5(PLD1):c.786A>G (p.Leu262=)
NM_002662.5(PLD1):c.822C>T (p.Phe274=)
NM_002662.5(PLD1):c.845T>C (p.Phe282Ser)
NM_002662.5(PLD1):c.85G>C (p.Asp29His) rs1353139460
NM_002662.5(PLD1):c.871A>G (p.Thr291Ala)
NM_002662.5(PLD1):c.880A>T (p.Lys294Ter) rs1717462000
NM_002662.5(PLD1):c.920T>C (p.Ile307Thr)

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