List of variants in gene ABCA3 reported as likely pathogenic for not provided

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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: 21

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00304
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)	rs45447801	0.00032
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)	rs201299260	0.00019
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs)	rs756855585	0.00002
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)	rs1298655924	0.00001
NM_001089.3(ABCA3):c.1112-20G>A
NM_001089.3(ABCA3):c.1285+4_1285+7del
NM_001089.3(ABCA3):c.2414+1G>A
NM_001089.3(ABCA3):c.3145T>C (p.Ser1049Pro)	rs1460001890
NM_001089.3(ABCA3):c.3208G>A (p.Ala1070Thr)
NM_001089.3(ABCA3):c.3341C>T (p.Thr1114Met)
NM_001089.3(ABCA3):c.3483+1G>A
NM_001089.3(ABCA3):c.3563A>G (p.Tyr1188Cys)
NM_001089.3(ABCA3):c.4359+2T>G
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)
NM_001089.3(ABCA3):c.55-1G>A
NM_001089.3(ABCA3):c.613+4A>G
NM_001089.3(ABCA3):c.737C>T (p.Pro246Leu)
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)
NM_001089.3(ABCA3):c.990+1G>T
NM_001089.3(ABCA3):c.991-2A>G

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