List of variants in gene ACSF3 reported as likely pathogenic by Invitae

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1502-2A>G	rs1188774860	0.00001
NM_001243279.3(ACSF3):c.666+1G>A	rs1336382616	0.00001
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NM_001243279.3(ACSF3):c.1127-2A>T
NM_001243279.3(ACSF3):c.1231_1239+9del
NM_001243279.3(ACSF3):c.1240-1G>C
NM_001243279.3(ACSF3):c.1366+1G>A
NM_001243279.3(ACSF3):c.1367-2_1367-1del
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)	rs1912702795
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1502-1G>C
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)	rs1914445437
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	rs140328142
NM_001243279.3(ACSF3):c.666+1G>T
NM_001243279.3(ACSF3):c.667-1G>T
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.822+1G>A	rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C	rs1975502704
NM_001243279.3(ACSF3):c.823-1G>A
NM_001243279.3(ACSF3):c.977+1G>A
NM_001243279.3(ACSF3):c.977+1G>C	rs141056046
NM_001243279.3(ACSF3):c.977+1G>T

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