List of variants in gene CTNS reported as uncertain significance for Cystinosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.695G>A (p.Arg232His)	rs142641674	0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	rs140326392	0.00072
NM_004937.3(CTNS):c.534C>T (p.Ile178=)	rs113967200	0.00058
NM_004937.3(CTNS):c.561+4C>T	rs111256750	0.00040
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	rs146684402	0.00036
NM_004937.3(CTNS):c.123C>T (p.Asn41=)	rs148084080	0.00019
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	rs1314998853	0.00015
NM_004937.3(CTNS):c.-645C>T	rs537110680	0.00005
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)	rs201153770	0.00005
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	rs776658046	0.00004
NM_004937.3(CTNS):c.852+8C>T	rs780856527	0.00004
NM_004937.3(CTNS):c.621C>T (p.Phe207=)	rs749428707	0.00003
NM_004937.3(CTNS):c.-643G>A	rs887657778	0.00001
NM_004937.3(CTNS):c.140+3A>G	rs778641729	0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=)	rs754247532	0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)	rs1009882965	0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	rs754433265	0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	rs768600603	0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=)	rs199824920	0.00001
NM_004937.3(CTNS):c.1024_1030delinsTGAAGCTGTC	rs886052872
NM_004937.3(CTNS):c.1033_1034insGGC	rs397831765
NM_004937.3(CTNS):c.1046_1047dup	rs772764926
NM_004937.3(CTNS):c.*1047dup	rs772764926
NM_004937.3(CTNS):c.1176_1179del	rs886052875
NM_004937.3(CTNS):c.1956_1957del	rs397856854
NM_004937.3(CTNS):c.*1957dup	rs397856854
NM_004937.3(CTNS):c.-23AG[1]	rs550436044
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)	rs147428183
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	rs2076255711
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)	rs560868487
NM_004937.3(CTNS):c.226G>A (p.Val76Ile)	rs1567709217
NM_004937.3(CTNS):c.534C>G (p.Ile178Met)	rs113967200
NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe)	rs886038378

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