ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1367+1G>A rs1769988075 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_004813.4(PEX16):c.359+1G>A rs530880623 0.00001
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp) rs1064794320 0.00001
NM_004813.4(PEX16):c.888-1G>C rs778478085 0.00001
NC_000006.11:g.(?_42931601)_(42937735_?)del
NC_000006.11:g.(?_42941721)_(42942796_?)dup
NM_000287.4(PEX6):c.1046+1G>T rs1554127968
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1367+2T>A
NM_000287.4(PEX6):c.1367+2T>C rs2481232940
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1479+1G>A rs2481228543
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1689-1G>A rs267608223
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1884+1G>A rs2481216669
NM_000287.4(PEX6):c.1885-1G>A rs1227840515
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-2A>G rs267608234
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G rs1769772582
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2471+1G>A rs2481202424
NM_000287.4(PEX6):c.2472-1G>A rs2481200515
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg) rs2481199616
NM_000287.4(PEX6):c.2589-1G>A rs2114237186
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.883-2A>G rs267608208
NM_000287.4(PEX6):c.883-6_887del rs2481258932
NM_004813.4(PEX16):c.112+2T>G rs1590798080
NM_004813.4(PEX16):c.149-2A>G rs2494908941
NM_004813.4(PEX16):c.226-2A>C rs2494905864
NM_004813.4(PEX16):c.694+1G>A rs2134692847
NM_004813.4(PEX16):c.887+2T>G rs2134691627
NM_004813.4(PEX16):c.888-2A>C rs2086772786

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