List of variants in gene BLTP1 reported as benign for Alkuraya-Kucinskas syndrome

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001384125.1(BLTP1):c.2475+17G>C	rs6534345	0.96625
NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=)	rs7688384	0.24881
NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=)	rs7658836	0.23884
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=)	rs45574236	0.23708

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