ClinVar Miner

List of variants in gene PCCA reported as benign

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Total variants: 78
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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.1845+10585T>C rs2760311 0.35905
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.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
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.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
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.36C>T (p.Val12=) rs375516917 0.00009
NM_000282.4(PCCA):c.106-5dup
NM_000282.4(PCCA):c.1285-13_1285-6del rs535982202
NM_000282.4(PCCA):c.1285-8dup rs2066517246
NM_000282.4(PCCA):c.1354-3dup
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
NM_000282.4(PCCA):c.1430-9dup
NM_000282.4(PCCA):c.1643+1155C>A
NM_000282.4(PCCA):c.183+274_183+277del rs140795575
NM_000282.4(PCCA):c.184-11dup
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.1900-15del
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.2041-10del
NM_000282.4(PCCA):c.2119-140GGTGG[2] rs3059677
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.301-109_301-108del rs139768303
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+81dup rs3215976
NM_000282.4(PCCA):c.468+148G>T rs77295050
NM_000282.4(PCCA):c.469-9del
NM_000282.4(PCCA):c.600+97AC[9] rs34598548
NM_000282.4(PCCA):c.638-207dup rs75177113
NM_000282.4(PCCA):c.717-323dup rs573486449
NM_000282.4(PCCA):c.914+46TTCA[3] rs113891803
NM_000282.4(PCCA):c.914+46TTCA[7] rs113891803
NM_000282.4(PCCA):c.915-11dup rs1311154145
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771

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