List of variants in gene PCCA reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.819+251T>A	rs115019877	0.01480
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.1846-273A>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.-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.828T>C (p.Gly276=)	rs143838146	0.00143
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)	rs150352833	0.00096
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.24A>G (p.Thr8=)	rs117397004	0.00013
NM_000282.4(PCCA):c.468+11A>C	rs187554010	0.00010
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.415-9A>G	rs1057520932	0.00003
NM_000282.4(PCCA):c.1285-4C>T	rs372262089	0.00002
NM_000282.4(PCCA):c.1285-15C>T	rs779554504	0.00001
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.2017G>C (p.Val673Leu)	rs142646074
NM_000282.4(PCCA):c.2040+234G>T	rs75185727
NM_000282.4(PCCA):c.2041-187A>T	rs112558130
NM_000282.4(PCCA):c.414+15A>G	rs1016791209
NM_000282.4(PCCA):c.42C>T (p.Ala14=)	rs200714802
NM_000282.4(PCCA):c.601-10G>A	rs903647084
NM_000282.4(PCCA):c.637+18C>T	rs758676556
NM_000282.4(PCCA):c.717-280A>T	rs117888540

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