ClinVar Miner

List of variants in gene SGSH reported as uncertain significance for Sanfilippo syndrome type A

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Total variants: 40
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HGVS dbSNP
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)
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
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.1259C>T (p.Pro420Leu)
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
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.1456G>A (p.Val486Ile)
NM_000199.5(SGSH):c.1462_1464GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
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.367_369AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
NM_000199.5(SGSH):c.532C>G (p.His178Asp)
NM_000199.5(SGSH):c.542A>G (p.His181Arg)
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
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
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246

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