ClinVar Miner

List of variants in gene combination CASD1, SGCE reported as likely benign for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_003919.3(SGCE):c.975G>A (p.Ser325=) rs145040065 0.00016
NM_003919.3(SGCE):c.138C>T (p.Ser46=) rs116632777 0.00011
NM_003919.3(SGCE):c.294T>C (p.Pro98=) rs138616225 0.00008
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) rs374697567 0.00006
NM_003919.3(SGCE):c.378A>C (p.Pro126=) rs746942662 0.00005
NM_003919.3(SGCE):c.234C>T (p.Gly78=) rs768766085 0.00004
NM_003919.3(SGCE):c.738G>A (p.Leu246=) rs767137229 0.00004
NM_003919.3(SGCE):c.823T>C (p.Leu275=) rs780163710 0.00004
NM_003919.3(SGCE):c.1158G>A (p.Thr386=) rs368276611 0.00003
NM_003919.3(SGCE):c.210A>G (p.Glu70=) rs907043992 0.00003
NM_003919.3(SGCE):c.279T>C (p.Gly93=) rs756901549 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_003919.3(SGCE):c.1074G>A (p.Leu358=) rs983297904 0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00002
NM_003919.3(SGCE):c.555C>T (p.Gly185=) rs768286622 0.00002
NM_003919.3(SGCE):c.693G>A (p.Pro231=) rs757206832 0.00002
NM_003919.3(SGCE):c.972C>T (p.Pro324=) rs1490533382 0.00002
NM_003919.3(SGCE):c.1038-4C>T rs745484720 0.00001
NM_003919.3(SGCE):c.1038-7T>C rs1158265768 0.00001
NM_003919.3(SGCE):c.1064+16C>A rs951428613 0.00001
NM_003919.3(SGCE):c.110-9T>C rs781152122 0.00001
NM_003919.3(SGCE):c.1176T>C (p.Pro392=) rs769125810 0.00001
NM_003919.3(SGCE):c.1237T>C (p.Leu413=) rs147387740 0.00001
NM_003919.3(SGCE):c.1253+15A>G rs1262368056 0.00001
NM_003919.3(SGCE):c.135C>T (p.His45=) rs1394843820 0.00001
NM_003919.3(SGCE):c.351C>T (p.Ser117=) rs1804066636 0.00001
NM_003919.3(SGCE):c.618C>T (p.Asp206=) rs1196762234 0.00001
NM_003919.3(SGCE):c.711A>G (p.Arg237=) rs1193322554 0.00001
NM_003919.3(SGCE):c.864G>A (p.Val288=) rs772144979 0.00001
NM_003919.3(SGCE):c.879G>A (p.Gly293=) rs781005887 0.00001
NM_003919.3(SGCE):c.909C>T (p.Pro303=) rs764483578 0.00001
NM_003919.3(SGCE):c.945G>A (p.Thr315=) rs539333988 0.00001
NM_003919.3(SGCE):c.960A>C (p.Thr320=) rs774546647 0.00001
NM_003919.3(SGCE):c.1037+10T>G rs2116693166
NM_003919.3(SGCE):c.1037+19A>T
NM_003919.3(SGCE):c.1038-12T>C
NM_003919.3(SGCE):c.1038-13G>A
NM_003919.3(SGCE):c.1038-18A>G rs779693236
NM_003919.3(SGCE):c.1038-9T>G rs1187065404
NM_003919.3(SGCE):c.1062A>G (p.Pro354=)
NM_003919.3(SGCE):c.1064+11T>A
NM_003919.3(SGCE):c.1064+14T>C
NM_003919.3(SGCE):c.1064+17C>T
NM_003919.3(SGCE):c.1064+19G>C
NM_003919.3(SGCE):c.1064+9C>T rs1798913576
NM_003919.3(SGCE):c.1065-22_1065-18del rs766688362
NM_003919.3(SGCE):c.1065-22_1065-20del rs752597509
NM_003919.3(SGCE):c.1065-6A>G
NM_003919.3(SGCE):c.110-10T>G
NM_003919.3(SGCE):c.110-15C>T
NM_003919.3(SGCE):c.1101T>A (p.Ser367=) rs756672671
NM_003919.3(SGCE):c.1104C>A (p.Thr368=) rs978868528
NM_003919.3(SGCE):c.1107G>A (p.Lys369=)
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)
NM_003919.3(SGCE):c.1221T>C (p.Asp407=)
NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
NM_003919.3(SGCE):c.1248G>C (p.Thr416=) rs759435338
NM_003919.3(SGCE):c.1253+14T>C
NM_003919.3(SGCE):c.1253+16G>A
NM_003919.3(SGCE):c.1253+16G>C
NM_003919.3(SGCE):c.1254-10del rs1584475449
NM_003919.3(SGCE):c.1297+12G>T
NM_003919.3(SGCE):c.1297+18T>C rs761278877
NM_003919.3(SGCE):c.1297+19A>G
NM_003919.3(SGCE):c.1298-10C>T rs1584460451
NM_003919.3(SGCE):c.1298-18C>T rs1796774548
NM_003919.3(SGCE):c.142C>A (p.Arg48=) rs760964336
NM_003919.3(SGCE):c.207G>A (p.Gly69=)
NM_003919.3(SGCE):c.225A>T (p.Pro75=) rs2116972106
NM_003919.3(SGCE):c.232+14G>A rs2116971817
NM_003919.3(SGCE):c.232+15A>G
NM_003919.3(SGCE):c.232+16G>A
NM_003919.3(SGCE):c.232+18A>G
NM_003919.3(SGCE):c.233-5T>A rs749444131
NM_003919.3(SGCE):c.246T>C (p.Asn82=)
NM_003919.3(SGCE):c.252C>T (p.Pro84=)
NM_003919.3(SGCE):c.285A>G (p.Pro95=)
NM_003919.3(SGCE):c.294T>A (p.Pro98=) rs138616225
NM_003919.3(SGCE):c.304C>A (p.Arg102=)
NM_003919.3(SGCE):c.306A>G (p.Arg102=)
NM_003919.3(SGCE):c.324A>G (p.Pro108=)
NM_003919.3(SGCE):c.381A>G (p.Thr127=)
NM_003919.3(SGCE):c.384C>T (p.Ile128=)
NM_003919.3(SGCE):c.390+10A>G
NM_003919.3(SGCE):c.390+12C>G
NM_003919.3(SGCE):c.390+14A>C
NM_003919.3(SGCE):c.391-18G>C rs199922447
NM_003919.3(SGCE):c.391-19G>A rs2116919102
NM_003919.3(SGCE):c.405C>T (p.Asn135=) rs2116918607
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003919.3(SGCE):c.436T>C (p.Leu146=) rs752074255
NM_003919.3(SGCE):c.463+12A>T
NM_003919.3(SGCE):c.463+13A>T
NM_003919.3(SGCE):c.463+15_463+16del
NM_003919.3(SGCE):c.463+17G>A
NM_003919.3(SGCE):c.463+19T>C rs759488852
NM_003919.3(SGCE):c.463+20G>T
NM_003919.3(SGCE):c.464-14T>A rs187568437
NM_003919.3(SGCE):c.464-14T>C
NM_003919.3(SGCE):c.464-20C>T
NM_003919.3(SGCE):c.513A>G (p.Val171=)
NM_003919.3(SGCE):c.561G>A (p.Val187=) rs1194137933
NM_003919.3(SGCE):c.561G>C (p.Val187=)
NM_003919.3(SGCE):c.567T>C (p.Asn189=) rs1802334402
NM_003919.3(SGCE):c.579A>G (p.Pro193=)
NM_003919.3(SGCE):c.600C>T (p.Asn200=) rs2116881251
NM_003919.3(SGCE):c.606A>C (p.Thr202=) rs148979783
NM_003919.3(SGCE):c.609G>A (p.Ser203=)
NM_003919.3(SGCE):c.662+19C>T
NM_003919.3(SGCE):c.663-19G>T
NM_003919.3(SGCE):c.663-5T>C rs748327900
NM_003919.3(SGCE):c.736T>C (p.Leu246=)
NM_003919.3(SGCE):c.783A>G (p.Lys261=)
NM_003919.3(SGCE):c.822A>T (p.Ser274=)
NM_003919.3(SGCE):c.825+12T>C
NM_003919.3(SGCE):c.825+12T>G
NM_003919.3(SGCE):c.825+17T>C
NM_003919.3(SGCE):c.825+19T>A rs777735591
NM_003919.3(SGCE):c.826-6T>C
NM_003919.3(SGCE):c.828T>G (p.Val276=)
NM_003919.3(SGCE):c.831T>C (p.Asp277=)
NM_003919.3(SGCE):c.837A>T (p.Thr279=)
NM_003919.3(SGCE):c.852C>G (p.Thr284=)
NM_003919.3(SGCE):c.876G>A (p.Glu292=)
NM_003919.3(SGCE):c.912T>G (p.Pro304=) rs1463065030
NM_003919.3(SGCE):c.996T>C (p.Phe332=)

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