List of variants in gene ABRAXAS1 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile)	rs150207999	0.00469
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)	rs114513239	0.00083
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=)	rs367969368	0.00011
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=)	rs201470211	0.00010
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln)	rs201627097	0.00008
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)	rs201698934	0.00004
NM_139076.3(ABRAXAS1):c.1035G>A (p.Lys345=)	rs1236290730	0.00001
NM_139076.3(ABRAXAS1):c.111A>G (p.Val37=)	rs1308142665
NM_139076.3(ABRAXAS1):c.178+1857C>T
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter)	rs137876115
NM_139076.3(ABRAXAS1):c.597C>T (p.Ser199=)

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