List of variants in gene ABCA3 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP
NM_001089.3(ABCA3):c.128G>A (p.Arg43His)	rs754714105
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)	rs121909184
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)
NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro)	rs121909182
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)	rs121909181
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro)	rs121909183
NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro)	rs28936691
NM_001089.3(ABCA3):c.4909+1G>A	rs1567335355
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs)	rs775903641
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)	rs201299260
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro)	rs121909185

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