ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-II by Revvity Omics, Revvity

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00010
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.785T>A (p.Val262Glu) rs782053689 0.00001
NM_000202.8(IDS):c.890G>A (p.Arg297His) rs1290154616 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs) rs2520902533
NM_000202.8(IDS):c.1133T>C (p.Phe378Ser)
NM_000202.8(IDS):c.116T>A (p.Val39Asp) rs2520902410
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.119T>C (p.Leu40Pro) rs2520902336
NM_000202.8(IDS):c.1304G>A (p.Gly435Asp)
NM_000202.8(IDS):c.1307dup (p.Asn437fs)
NM_000202.8(IDS):c.1334G>A (p.Arg445His) rs782371096
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs) rs2520756537
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter) rs2520756362
NM_000202.8(IDS):c.1390A>G (p.Ser464Gly)
NM_000202.8(IDS):c.1405C>G (p.Pro469Ala)
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu) rs868934036
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.1438C>T (p.Pro480Ser)
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>A (p.Arg48His)
NM_000202.8(IDS):c.1481C>T (p.Thr494Ile) rs2520754318
NM_000202.8(IDS):c.1493G>C (p.Arg498Thr) rs1557337595
NM_000202.8(IDS):c.1494del (p.Arg498fs) rs2520754068
NM_000202.8(IDS):c.1562A>G (p.Glu521Gly)
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter) rs2124648259
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg) rs782041174
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.241-3C>G rs2124063783
NM_000202.8(IDS):c.241C>T (p.Gln81Ter) rs2520897240
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.275T>G (p.Leu92Arg)
NM_000202.8(IDS):c.285_287del (p.Arg96del) rs2520896826
NM_000202.8(IDS):c.2T>C (p.Met1Thr) rs2124069617
NM_000202.8(IDS):c.301C>A (p.Arg101Ser)
NM_000202.8(IDS):c.310G>A (p.Asp104Asn)
NM_000202.8(IDS):c.353C>T (p.Thr118Ile) rs2520895871
NM_000202.8(IDS):c.359C>T (p.Pro120Leu)
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys) rs2520862723
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr) rs2520862570
NM_000202.8(IDS):c.689T>A (p.Ile230Asn)
NM_000202.8(IDS):c.725A>G (p.Tyr242Cys)
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr) rs146458524
NM_000202.8(IDS):c.776T>A (p.Leu259Gln)
NM_000202.8(IDS):c.777dup (p.Pro260fs) rs2520851660
NM_000202.8(IDS):c.778C>A (p.Pro260Thr)
NM_000202.8(IDS):c.778C>T (p.Pro260Ser)
NM_000202.8(IDS):c.791A>G (p.Tyr264Cys)
NM_000202.8(IDS):c.794A>T (p.Asn265Ile) rs2520851150
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
NM_000202.8(IDS):c.797C>T (p.Pro266Leu)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.877C>T (p.Gln293Ter) rs2124041126
NM_000202.8(IDS):c.878A>G (p.Gln293Arg) rs2089435877
NM_000202.8(IDS):c.880-2A>G rs2520813902
NM_000202.8(IDS):c.889C>G (p.Arg297Gly)

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