ClinVar Miner

List of variants in gene IDS reported as uncertain significance for Mucopolysaccharidosis, MPS-II

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
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.1261C>T (p.Arg421Cys) rs781825818 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_000202.8(IDS):c.1285G>A (p.Val429Ile) rs781916566 0.00001
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys) rs2089307002 0.00001
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys) rs1233392388 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1483A>G (p.Ile495Val) rs782228221 0.00001
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys) rs145056272 0.00001
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.352A>T (p.Thr118Ser) rs2089496220 0.00001
NM_000202.8(IDS):c.98C>T (p.Thr33Ile) rs1557340562 0.00001
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564277)_(148564769_?)dup
NC_000023.10:g.(?_148564277)_(148586667_?)dup
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.10:g.(?_148582460)_(148586667_?)dup
NM_000202.8(IDS):c.101C>A (p.Thr34Lys) rs1156672457
NM_000202.8(IDS):c.106G>A (p.Ala36Thr) rs782736039
NM_000202.8(IDS):c.116T>A (p.Val39Asp) rs2520902410
NM_000202.8(IDS):c.1183A>G (p.Arg395Gly)
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro) rs2520758743
NM_000202.8(IDS):c.119T>C (p.Leu40Pro) rs2520902336
NM_000202.8(IDS):c.1207C>G (p.Leu403Val) rs2520758659
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe) rs2089308207
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.124A>G (p.Ile42Val) rs2089505177
NM_000202.8(IDS):c.124ATC[4] (p.Ile43_Val44insIleIle)
NM_000202.8(IDS):c.1253T>C (p.Val418Ala) rs2520757984
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr) rs2520757904
NM_000202.8(IDS):c.1258C>A (p.Pro420Thr)
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe) rs2520757280
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly) rs199422227
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu) rs2123994624
NM_000202.8(IDS):c.1364G>T (p.Gly455Val) rs2520756235
NM_000202.8(IDS):c.1387T>C (p.Tyr463His) rs1365886210
NM_000202.8(IDS):c.1405C>G (p.Pro469Ala)
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu) rs868934036
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn) rs2089305507
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.142C>T (p.Arg48Cys) rs1412895796
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu) rs2123994225
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr) rs2520754446
NM_000202.8(IDS):c.1494del (p.Arg498fs) rs2520754068
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala) rs2520753971
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg) rs2089304297
NM_000202.8(IDS):c.1556C>T (p.Ala519Val)
NM_000202.8(IDS):c.1583A>T (p.Asp528Val)
NM_000202.8(IDS):c.1604T>C (p.Met535Thr)
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser) rs2089303240
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile) rs2520751980
NM_000202.8(IDS):c.1644G>T (p.Leu548Phe)
NM_000202.8(IDS):c.1649C>A (p.Pro550His) rs782041174
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg) rs782041174
NM_000202.8(IDS):c.166G>A (p.Asp56Asn) rs781919816
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del) rs2520900881
NM_000202.8(IDS):c.217C>T (p.Leu73Phe)
NM_000202.8(IDS):c.227A>G (p.Asn76Ser) rs2520900734
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.240+3A>G rs2124065632
NM_000202.8(IDS):c.241-4A>G rs2089497765
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.260G>A (p.Ser87Asn)
NM_000202.8(IDS):c.265G>A (p.Val89Ile)
NM_000202.8(IDS):c.292G>A (p.Asp98Asn)
NM_000202.8(IDS):c.311A>T (p.Asp104Val)
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.337G>A (p.Ala113Thr) rs2124063209
NM_000202.8(IDS):c.346T>G (p.Phe116Val) rs2124063192
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp) rs2520895682
NM_000202.8(IDS):c.380G>A (p.Gly127Asp) rs2520895569
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser) rs2124063021
NM_000202.8(IDS):c.388A>G (p.Thr130Ala) rs2520895485
NM_000202.8(IDS):c.412C>T (p.His138Tyr)
NM_000202.8(IDS):c.418+4C>G rs782011209
NM_000202.8(IDS):c.418+6_418+7del rs2520894952

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