List of variants reported as pathogenic for juvenile nephropathic cystinosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	rs113994205	0.00010
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_004937.3(CTNS):c.646dup (p.Thr216fs)	rs893207601	0.00001
NM_004937.3(CTNS):c.681+1G>A	rs749317721	0.00001
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	rs786204501
NM_004937.3(CTNS):c.559_561+24del	rs113994211
NM_004937.3(CTNS):c.561+1del	rs786204667
NM_004937.3(CTNS):c.61+5G>A	rs1407498555
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	rs1555563982
NM_004937.3(CTNS):c.829dup (p.Thr277fs)	rs752919200
NM_004937.3(CTNS):c.926dup (p.Ser310fs)	rs786204420

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