List of variants in gene combination LOC126805616, PEX14 reported as likely benign for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)	rs147706488	0.00070
NM_004565.3(PEX14):c.567C>T (p.His189=)	rs147210317	0.00033
NM_004565.3(PEX14):c.488-4G>A	rs376837541	0.00010
NM_004565.3(PEX14):c.488-5C>T	rs767128417	0.00003
NM_004565.3(PEX14):c.585+18A>C	rs532665793	0.00002
NM_004565.3(PEX14):c.488-22_488-20del	rs1193800404	0.00001
NM_004565.3(PEX14):c.507C>T (p.Thr169=)	rs374000675	0.00001
NM_004565.3(PEX14):c.510C>T (p.Leu170=)	rs1319304159	0.00001
NM_004565.3(PEX14):c.531G>C (p.Leu177=)	rs1641685652	0.00001
NM_004565.3(PEX14):c.576C>T (p.Ala192=)	rs377059083	0.00001
NM_004565.3(PEX14):c.488-15G>A
NM_004565.3(PEX14):c.510C>G (p.Leu170=)	rs1319304159
NM_004565.3(PEX14):c.525G>A (p.Glu175=)
NM_004565.3(PEX14):c.543G>A (p.Gln181=)	rs1557438039
NM_004565.3(PEX14):c.585+10T>C
NM_004565.3(PEX14):c.585+11C>T
NM_004565.3(PEX14):c.585+11_585+12del
NM_004565.3(PEX14):c.585+23_585+32dup	rs566024461

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