List of variants in gene ABCD3 studied for congenital bile acid synthesis defect

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002858.4(ABCD3):c.1846-31C>G	rs3118109	0.98643
NM_002858.4(ABCD3):c.162G>A (p.Lys54=)	rs16946	0.35872
NM_002858.4(ABCD3):c.155G>T (p.Gly52Val)	rs142075958	0.00530
NM_002858.4(ABCD3):c.1903-573_*1108del
NM_002858.4(ABCD3):c.684+228G>A

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