ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-A by Invitae

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Total variants: 35
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HGVS dbSNP
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
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.1159G>T (p.Val387Leu)
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
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.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)

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