List of variants in gene ABAT 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: 21

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HGVS	dbSNP	gnomAD frequency
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)	rs1330995774	0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)	rs724159992	0.00001
NM_020686.6(ABAT):c.638T>G (p.Phe213Cys)	rs1567312671	0.00001
ABAT, 3-PRIME DELETION
NC_000016.9:g.(?_8839838)_(8870367_?)del
NM_000663.4(ABAT):c.199-?_316+?del
NM_000663.5:c.199_316del
NM_020686.6(ABAT):c.1128C>G (p.Tyr376Ter)
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg)	rs781555217
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp)	rs1057523345
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro)	rs724159991
NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro)	rs1555494322
NM_020686.6(ABAT):c.168+1G>A	rs1567300736
NM_020686.6(ABAT):c.274C>T (p.Arg92Ter)
NM_020686.6(ABAT):c.378dup (p.Asn127fs)
NM_020686.6(ABAT):c.454C>T (p.Pro152Ser)	rs1567310537
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe)	rs724159990
NM_020686.6(ABAT):c.659G>A (p.Arg220Lys)	rs121434578
NM_020686.6(ABAT):c.817-2A>G	rs1555492932
NM_020686.6(ABAT):c.829_832del (p.Leu276_Ile277insTer)

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