List of variants studied for cystinosis by GeneReviews

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Total variants: 16

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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.589G>A (p.Gly197Arg)	rs113994207	0.00004
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	rs113994208	0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	rs746307931	0.00001
NC_000017.11:g.3600934_3658165del
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	rs786204501
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	rs550254092
NM_004937.3(CTNS):c.397A>T (p.Ile133Phe)	rs886040970
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	rs764168489
NM_004937.3(CTNS):c.559_561+24del	rs113994211
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	rs760256854
NM_004937.3(CTNS):c.696dup (p.Val233fs)	rs113994209
NM_004937.3(CTNS):c.853-3C>G	rs113994210

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