ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-A by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 72
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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.-12G>A
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
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.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
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.1393C>T (p.Arg465Trp) rs754273400
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.250-15C>T
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
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.417G>A (p.Thr139=)
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.506+13G>T
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
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.676G>A (p.Val226Ile) rs145967352
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
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.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)

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