List of variants in gene SLC7A7 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	rs774080549	0.00004
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	rs386833798	0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	rs752263234	0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	rs1355745932	0.00001
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	rs386833794
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	rs1290445670
NM_003982.4(SLC7A7):c.770+1del	rs2139394672
NM_003982.4(SLC7A7):c.894+1G>T	rs386833827

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