List of variants in gene ABCA1 reported as likely pathogenic

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)	rs146292819	0.00029
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)	rs762770081	0.00007
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp)	rs759576379	0.00001
NM_005502.4(ABCA1):c.4175+1G>T	rs375247413	0.00001
NC_000009.11:g.(?_107547657)_(107550868_?)del
NM_005502.4(ABCA1):c.1857_1858delinsAT (p.Met619_Gln620delinsIleTer)
NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp)	rs28937314
NM_005502.4(ABCA1):c.302+1G>A	rs1838970198
NM_005502.4(ABCA1):c.3103+1G>C
NM_005502.4(ABCA1):c.3215G>A (p.Trp1072Ter)	rs1450125094
NM_005502.4(ABCA1):c.3787+1G>A
NM_005502.4(ABCA1):c.4243G>A (p.Gly1415Arg)
NM_005502.4(ABCA1):c.4274+1G>A
NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter)
NM_005502.4(ABCA1):c.5237+3A>C	rs1440948694
NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)

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