List of variants in gene SLC7A9 reported as pathogenic by OMIM

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00238
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00017
NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)	rs121908486	0.00014
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)	rs121908487	0.00012
NM_014270.5(SLC7A9):c.604+2T>C	rs763110287	0.00005
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	rs121908484	0.00004
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)	rs121908482	0.00001
NM_014270.5(SLC7A9):c.605-3C>A	rs749913021	0.00001
NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)	rs121908485
NM_014270.5(SLC7A9):c.335dup (p.Ser113fs)
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)	rs774124697
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)	rs121908479
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	rs745319034
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	rs121908483

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