ClinVar Miner

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

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Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.950C>A (p.Ala317Asp) rs374576277 0.00006
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) rs1406337035 0.00004
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.1007-4C>T rs781947914 0.00001
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) rs138918423 0.00001
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) rs782634993 0.00001
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_000202.8(IDS):c.1483A>G (p.Ile495Val) rs782228221 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.785T>A (p.Val262Glu) rs782053689 0.00001
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
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.1007-15_1007-9delinsGTGGGCTCTAGG
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr)
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala)
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser) rs2124005937
NM_000202.8(IDS):c.1121G>T (p.Gly374Val) rs2124005760
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr) rs2089341258
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
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)
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu) rs2123994624
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
NM_000202.8(IDS):c.1387T>C (p.Tyr463His) rs1365886210
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
NM_000202.8(IDS):c.1405C>G (p.Pro469Ala)
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
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)
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
NM_000202.8(IDS):c.217C>T (p.Leu73Phe)
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
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
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.28C>T (p.Leu10Phe)
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)
NM_000202.8(IDS):c.346T>G (p.Phe116Val) rs2124063192
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser) rs2124063021
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.418+4C>G rs782011209
NM_000202.8(IDS):c.418+6_418+7del
NM_000202.8(IDS):c.419-3A>G
NM_000202.8(IDS):c.421A>G (p.Ile141Val)
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
NM_000202.8(IDS):c.482C>G (p.Ser161Cys)
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
NM_000202.8(IDS):c.500A>G (p.Asn167Ser)
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)
NM_000202.8(IDS):c.553C>T (p.Pro185Ser)
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000202.8(IDS):c.577G>C (p.Glu193Gln)
NM_000202.8(IDS):c.58G>C (p.Val20Leu)
NM_000202.8(IDS):c.608A>T (p.Glu203Val) rs2124046817
NM_000202.8(IDS):c.64G>A (p.Val22Ile)
NM_000202.8(IDS):c.664G>T (p.Ala222Ser)
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
NM_000202.8(IDS):c.699A>G (p.Arg233=)
NM_000202.8(IDS):c.708+6G>T
NM_000202.8(IDS):c.709-657G>A
NM_000202.8(IDS):c.748G>A (p.Ala250Thr)
NM_000202.8(IDS):c.749C>T (p.Ala250Val)
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr) rs146458524
NM_000202.8(IDS):c.771T>A (p.Asp257Glu)
NM_000202.8(IDS):c.773G>A (p.Gly258Asp) rs2124041717
NM_000202.8(IDS):c.779C>G (p.Pro260Arg)
NM_000202.8(IDS):c.781C>T (p.Pro261Ser) rs141720810
NM_000202.8(IDS):c.782C>T (p.Pro261Leu)
NM_000202.8(IDS):c.806A>G (p.Asp269Gly) rs1085308006
NM_000202.8(IDS):c.833C>T (p.Ala278Val)
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
NM_000202.8(IDS):c.876T>G (p.Phe292Leu)
NM_000202.8(IDS):c.878A>G (p.Gln293Arg) rs2089435877
NM_000202.8(IDS):c.880-72A>G rs782031668
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.890G>A (p.Arg297His)
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp) rs2089380312
NM_000202.8(IDS):c.904G>T (p.Ala302Ser)
NM_000202.8(IDS):c.931G>T (p.Val311Phe)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) rs2089379111
NM_000202.8(IDS):c.970G>A (p.Ala324Thr)
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
NM_000203.5(IDUA):c.1045G>C (p.Asp349His)

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