ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-A by Natera, Inc.

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Total variants: 28
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HGVS dbSNP
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
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.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
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.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346

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