ClinVar Miner

List of variants in gene SGSH reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*1098G>A rs886053551
NM_000199.5(SGSH):c.*126G>A rs546128310
NM_000199.5(SGSH):c.*232T>C
NM_000199.5(SGSH):c.*309G>A rs566654466
NM_000199.5(SGSH):c.*369C>T rs886053557
NM_000199.5(SGSH):c.*378G>A
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*459C>T
NM_000199.5(SGSH):c.*471G>A
NM_000199.5(SGSH):c.*499C>T rs886053555
NM_000199.5(SGSH):c.*501C>T rs377165572
NM_000199.5(SGSH):c.*506C>T
NM_000199.5(SGSH):c.*657C>T
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T
NM_000199.5(SGSH):c.*834A>G
NM_000199.5(SGSH):c.*890G>A
NM_000199.5(SGSH):c.*891A>G
NM_000199.5(SGSH):c.*93A>G
NM_000199.5(SGSH):c.*95A>T
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.*994G>A
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179
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.1490C>T (p.Pro497Leu)
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
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.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.250-15C>T
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.506+13G>T
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
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.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346

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