List of variants reported as pathogenic for Cystinuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	rs200483989	0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00017
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)	rs201502095	0.00007
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	rs121908484	0.00004
NM_000341.4(SLC3A1):c.1500+1G>T	rs886042834	0.00002
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)	rs777575410	0.00001
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)	rs753692696
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	rs1007096305
NM_014270.5(SLC7A9):c.1400-2A>G	rs2145788754
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

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