ClinVar Miner

List of variants reported as uncertain significance for mucopolysaccharidosis type 3A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.*93A>G rs111628992 0.00267
NM_000199.5(SGSH):c.*232T>C rs113462619 0.00254
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.*657C>T rs564023302 0.00160
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_000199.5(SGSH):c.*378G>A rs372712517 0.00083
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000199.5(SGSH):c.*499C>T rs886053555 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000199.5(SGSH):c.*501C>T rs377165572 0.00029
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352 0.00022
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000199.5(SGSH):c.*890G>A rs111726823 0.00019
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000199.5(SGSH):c.*126G>A rs546128310 0.00011
NM_000199.5(SGSH):c.*471G>A rs138717045 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00009
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser) rs149248428 0.00007
NM_000199.5(SGSH):c.*834A>G rs1022741298 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038 0.00004
NM_000199.5(SGSH):c.*309G>A rs566654466 0.00003
NM_000199.5(SGSH):c.*459C>T rs532130517 0.00003
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp) rs756193095 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633 0.00002
NM_000199.5(SGSH):c.*1098G>A rs886053551 0.00001
NM_000199.5(SGSH):c.*369C>T rs886053557 0.00001
NM_000199.5(SGSH):c.*506C>T rs1011435930 0.00001
NM_000199.5(SGSH):c.*994G>A rs929179426 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400 0.00001
NM_000199.5(SGSH):c.309G>A (p.Lys103=) rs751641089 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T rs1360057013
NM_000199.5(SGSH):c.*891A>G rs903251344
NM_000199.5(SGSH):c.*95A>T rs2041585066
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.-12G>A rs1598772757
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser) rs780969693
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu) rs1281022554
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.658G>C (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly) rs1314742501
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile) rs747197522
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388

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