List of variants in gene combination LOC129998796, PEX1 reported as uncertain significance for peroxisomal disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.-43T>G	rs572810743	0.00058
NM_000466.3(PEX1):c.-19A>G	rs368326503	0.00016
NM_000466.3(PEX1):c.-45T>C	rs886062509	0.00001
NM_000466.3(PEX1):c.-77C>G	rs1301449696	0.00001
NM_000466.3(PEX1):c.15T>A (p.Asp5Glu)	rs201385649	0.00001
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu)	rs747408581	0.00001
NM_000466.3(PEX1):c.-74A>G	rs886062510
NM_000466.3(PEX1):c.-82C>G	rs1169565016
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu)	rs1261327878
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp)
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala)	rs747408581
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)	rs1554378403
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser)	rs1793399605
NM_000466.3(PEX1):c.74G>A (p.Arg25His)

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