List of variants in gene combination GATAD1, PEX1 reported as uncertain significance for obsolete Heimler syndrome 1

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	rs182452430	0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	rs185181696	0.00029
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	rs754130942	0.00028
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)	rs753699011	0.00014
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)	rs535271603	0.00006
NM_000466.3(PEX1):c.2926+4A>G	rs749060853	0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	rs1009877821	0.00001
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)	rs773206107
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)	rs1164302223
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)	rs2116043736
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	rs553001596

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