List of variants in gene ACSF3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)	rs143793502	0.09373
NM_001243279.3(ACSF3):c.667-13T>C	rs139367843	0.00923
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=)	rs147718091	0.00029
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn)	rs535695991	0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)	rs749994320	0.00010
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NC_000016.10:g.89157603C>A
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
NM_001243279.3(ACSF3):c.556C>G (p.Pro186Ala)

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