ClinVar Miner

List of variants in gene SGSH reported by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.