List of variants in gene PEX1 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.130-1G>T	rs1028247729	0.00002
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)	rs61750407	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000466.3(PEX1):c.2071+1G>T	rs267608177	0.00001
NM_000466.3(PEX1):c.2719-1G>A	rs1791673946	0.00001
NM_000466.3(PEX1):c.2719-2A>G	rs1554369234	0.00001
NC_000007.13:g.(?_92146659)_(92148107_?)del
NC_000007.13:g.(?_92146662)_(92148110_?)del
NM_000466.3(PEX1):c.130-2A>T	rs1585260993
NM_000466.3(PEX1):c.1359+1G>C	rs2484692157
NM_000466.3(PEX1):c.1587+1G>A	rs1057517469
NM_000466.3(PEX1):c.1587+1G>T	rs1057517469
NM_000466.3(PEX1):c.1670+1G>A	rs1057517490
NM_000466.3(PEX1):c.1670+1G>T	rs1057517490
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.1793_1803+1del	rs2116180739
NM_000466.3(PEX1):c.1900+1G>A	rs770447891
NM_000466.3(PEX1):c.1900+2T>C	rs1562857198
NM_000466.3(PEX1):c.1901-1G>T	rs1792111046
NM_000466.3(PEX1):c.1901-2A>G	rs2484669193
NM_000466.3(PEX1):c.2071+2T>C	rs1478905473
NM_000466.3(PEX1):c.2072-1G>A	rs776263154
NM_000466.3(PEX1):c.2072-42_2085del	rs1792018845
NM_000466.3(PEX1):c.2227-1G>C	rs2484662083
NM_000466.3(PEX1):c.2417-1G>T	rs1365047750
NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser)
NM_000466.3(PEX1):c.2583+1G>T	rs771586413
NM_000466.3(PEX1):c.2718+1G>A	rs2484655081
NM_000466.3(PEX1):c.273+1G>A	rs1554376597
NM_000466.3(PEX1):c.273+2T>G	rs1793074319
NM_000466.3(PEX1):c.2783+2T>C	rs1585224312
NM_000466.3(PEX1):c.357+1G>C	rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.358-1G>T	rs1057517479
NM_000466.3(PEX1):c.358-2A>C	rs1057517500

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