ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as uncertain significance for mucopolysaccharidosis

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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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.449C>T (p.Pro150Leu) rs1406337035 0.00004
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.785T>A (p.Val262Glu) rs782053689 0.00001
NM_000202.8(IDS):c.1007-15_1007-9delinsGTGGGCTCTAGG
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
NM_000202.8(IDS):c.1030G>A (p.Glu344Lys)
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
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.1133T>C (p.Phe378Ser)
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr) rs2089341258
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
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.478C>G (p.Pro160Ala)
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.532C>G (p.Leu178Val)
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.608A>T (p.Glu203Val) rs2124046817
NM_000202.8(IDS):c.664G>T (p.Ala222Ser)
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
NM_000202.8(IDS):c.689T>A (p.Ile230Asn)
NM_000202.8(IDS):c.694T>A (p.Phe232Ile)
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.818G>T (p.Arg273Leu)
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)

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