ClinVar Miner

List of variants in gene CSPP1 reported as pathogenic for short rib dysplasia

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) rs770296270 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_001382391.1(CSPP1):c.1976-2A>G rs1320076769 0.00002
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) rs750696284 0.00002
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) rs1225726214 0.00001
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) rs1380418532 0.00001
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) rs774703929 0.00001
NC_000008.10:g.(68007968_68015271)_(68062171_68066258)del
NC_000008.10:g.(?_67998222)_(67998365_?)del
NC_000008.10:g.(?_68024187)_(68031076_?)del
NC_000008.10:g.(?_68044166)_(68044335_?)del
NM_001382391.1(CSPP1):c.-56del
NM_001382391.1(CSPP1):c.-69C>T rs1294428066
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) rs374703898
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) rs886044058
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) rs760205035
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) rs1818317027
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) rs752908017
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) rs756752153
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
NM_001382391.1(CSPP1):c.1698-1G>C rs2129554176
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) rs1409618249
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) rs1021950925
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) rs1189289587
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) rs1201375699
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) rs1825358020
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) rs1827098991
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) rs1375090095
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) rs761382780
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) rs863225191
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) rs863225191
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) rs755739341
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) rs1554604482
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001382391.1(CSPP1):c.2540del (p.His847fs) rs1563720581
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) rs2129543529
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2829-9_2968+11del rs1554614893
NM_001382391.1(CSPP1):c.294T>A (p.Tyr98Ter)
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) rs1371078806
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) rs863225192
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
NM_001382391.1(CSPP1):c.923+1G>C rs863225194

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