ClinVar Miner

List of variants in gene CTNS reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.852+242C>G rs466867 0.58947
NM_004937.3(CTNS):c.461+52G>A rs467277 0.51389
NM_004937.3(CTNS):c.-19-211A>G rs456253 0.43126
NM_004937.3(CTNS):c.461+49A>G rs457419 0.35954
NM_004937.3(CTNS):c.141-103G>A rs222778 0.35912
NM_004937.3(CTNS):c.970+70C>T rs222753 0.34692
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_004937.3(CTNS):c.681+274G>A rs4790532 0.15427
NM_004937.3(CTNS):c.461+54G>A rs12938401 0.15247
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004937.3(CTNS):c.852+281T>C rs12325801 0.14096
NM_004937.3(CTNS):c.970+45C>T rs11868420 0.10969
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_004937.3(CTNS):c.461+317C>A rs9907296 0.06024
NM_004937.3(CTNS):c.-634C>T rs138913261 0.05988
NC_000017.11:g.3636333A>T rs111541274 0.05900
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.62-224C>T rs80308477 0.04921
NM_004937.3(CTNS):c.852+228G>A rs9900963 0.04194
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.682-98G>A rs112318471 0.02977
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.852+275C>T rs143878662 0.01069
NM_004937.3(CTNS):c.226-194G>A rs116061320 0.00696
NM_004937.3(CTNS):c.853-28C>T rs78671385 0.00563
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_004937.3(CTNS):c.971-114G>A rs138808519 0.00192
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.613G>A (p.Asp205Asn) rs113994208 0.00001
NC_000017.11:g.3636287G>T rs77838064
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.225+147G>C rs161351
NM_004937.3(CTNS):c.226-11C>T
NM_004937.3(CTNS):c.226-301dup rs560988939
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.443T>C (p.Met148Thr)
NM_004937.3(CTNS):c.516dup (p.Tyr173fs) rs1555563441
NM_004937.3(CTNS):c.665A>G (p.Gln222Arg)
NM_004937.3(CTNS):c.681+293_681+299del rs11280317
NM_004937.3(CTNS):c.682-66C>A rs111526586
NM_004937.3(CTNS):c.852+243A>G rs465221
NM_004937.3(CTNS):c.852+259C>G rs12325922
NM_004937.3(CTNS):c.853-236G>A rs79999227
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587

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