ClinVar Miner

List of variants in gene PCCA reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_000282.4(PCCA):c.2118+191G>C rs837335 0.61718
NM_000282.4(PCCA):c.2119-204A>G rs857294 0.57972
NM_000282.4(PCCA):c.105+273G>A rs7984311 0.43949
NM_000282.4(PCCA):c.184-305T>C rs4772265 0.33019
NM_000282.4(PCCA):c.2040+172C>T rs837286 0.32064
NM_000282.4(PCCA):c.2040+242G>T rs61614293 0.27240
NM_000282.4(PCCA):c.106-93G>A rs2184382 0.22830
NM_000282.4(PCCA):c.414+88A>G rs9585365 0.16939
NM_000282.4(PCCA):c.468+51G>A rs35055557 0.16099
NM_000282.4(PCCA):c.300+300T>C rs73570922 0.16052
NM_000282.4(PCCA):c.469-324C>T rs17196604 0.15791
NM_000282.4(PCCA):c.468+211A>G rs1556800 0.14260
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.637+102A>G rs539158 0.14245
NM_000282.4(PCCA):c.1846-104C>G rs1283292 0.12185
NM_000282.4(PCCA):c.1746+98T>A rs10508043 0.11075
NM_000282.4(PCCA):c.1747-161C>T rs75527610 0.09557
NM_000282.4(PCCA):c.1747-113G>A rs62619988 0.05240
NM_000282.4(PCCA):c.601-91G>A rs7319215 0.04363
NM_000282.4(PCCA):c.1747-276del rs35930661 0.04340
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.106-301C>T rs9300586 0.03938
NM_000282.4(PCCA):c.820-96A>G rs79631831 0.03663
NM_000282.4(PCCA):c.600+325T>A rs113566641 0.03442
NM_000282.4(PCCA):c.1644-101A>T rs9585419 0.03318
NM_000282.4(PCCA):c.1644-84T>C rs16957348 0.03313
NM_000282.4(PCCA):c.1746+248G>A rs78735612 0.03313
NM_000282.4(PCCA):c.415-132T>A rs111596243 0.01869
NM_000282.4(PCCA):c.414+276G>T rs77110421 0.01860
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_000282.4(PCCA):c.819+251T>A rs115019877 0.01480
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.1285-1674C>T rs73573293 0.01208
NM_000282.4(PCCA):c.1846-43G>C rs1283293 0.00966
NM_000282.4(PCCA):c.106-210C>T rs117350137 0.00769
NM_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_000282.4(PCCA):c.2041-223A>G rs113703781 0.00752
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1846-273A>G rs139759394 0.00626
NM_000282.4(PCCA):c.2119-63C>T rs58234976 0.00582
NM_000282.4(PCCA):c.2118+187C>T rs114155597 0.00575
NM_000282.4(PCCA):c.2118+50C>T rs72661023 0.00559
NM_000282.4(PCCA):c.1429+60G>T rs144741192 0.00396
NM_000282.4(PCCA):c.1285-1160G>C rs139574237 0.00395
NM_000282.4(PCCA):c.1285-90T>C rs116097588 0.00395
NM_000282.4(PCCA):c.914+58T>A rs536059838 0.00368
NM_000282.4(PCCA):c.1285-63G>A rs183060638 0.00337
NC_000013.11:g.100089052T>G rs368695107 0.00321
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000282.4(PCCA):c.-14C>T rs113438150 0.00232
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_000282.4(PCCA):c.469-43C>T rs142134673 0.00205
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015 0.00019
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.468+11A>C rs187554010 0.00010
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys) rs200710812 0.00003
NM_000282.4(PCCA):c.415-9A>G rs1057520932 0.00003
NM_000282.4(PCCA):c.1285-4C>T rs372262089 0.00002
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser) rs369743452 0.00002
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu) rs750840362 0.00002
NM_000282.4(PCCA):c.1285-15C>T rs779554504 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser) rs796052018 0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000282.4(PCCA):c.1003G>A (p.Val335Met)
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
NM_000282.4(PCCA):c.1129G>A (p.Ala377Thr)
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
NM_000282.4(PCCA):c.1241T>C (p.Ile414Thr)
NM_000282.4(PCCA):c.1285-13_1285-6del rs535982202
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1354-88T>G rs181511046
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-37TGAT[3] rs748498827
NM_000282.4(PCCA):c.1558A>G (p.Ser520Gly) rs112237881
NM_000282.4(PCCA):c.183+274_183+277del rs140795575
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1846-38_1846-35dup rs200232606
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly) rs375617644
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2040+114G>C rs837285
NM_000282.4(PCCA):c.2040+118C>T rs36103425
NM_000282.4(PCCA):c.2040+234G>T rs75185727
NM_000282.4(PCCA):c.2041-187A>T rs112558130
NM_000282.4(PCCA):c.2118G>C (p.Thr706=) rs758468297
NM_000282.4(PCCA):c.2119-140GGTGG[2] rs3059677
NM_000282.4(PCCA):c.2133C>G (p.His711Gln)
NM_000282.4(PCCA):c.232-9T>C
NM_000282.4(PCCA):c.301-109_301-108del rs139768303
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.414+81dup rs3215976
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.468+148G>T rs77295050
NM_000282.4(PCCA):c.600+97AC[9] rs34598548
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.638-207dup rs75177113
NM_000282.4(PCCA):c.717-280A>T rs117888540
NM_000282.4(PCCA):c.717-323dup rs573486449
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.914+46TTCA[3] rs113891803
NM_000282.4(PCCA):c.914+46TTCA[7] rs113891803
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347

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