List of variants reported as pathogenic for Nephropathic cystinosis by Counsyl

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	rs121908127	0.00004
NM_004937.3(CTNS):c.646dup (p.Thr216fs)	rs893207601	0.00001
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	rs786204501
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)	rs745365232
NM_004937.3(CTNS):c.681G>A (p.Glu227=)	rs778414542
NM_004937.3(CTNS):c.829dup (p.Thr277fs)	rs752919200
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	rs917630768
NM_004937.3(CTNS):c.971-12G>A	rs375952052

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