ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-C by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_152419.3(HGSNAT):c.*1026G>C
NM_152419.3(HGSNAT):c.*1034G>A rs886062957
NM_152419.3(HGSNAT):c.*1064A>G rs886062958
NM_152419.3(HGSNAT):c.*1112C>T
NM_152419.3(HGSNAT):c.*1137C>T rs142422330
NM_152419.3(HGSNAT):c.*1204C>A rs763225051
NM_152419.3(HGSNAT):c.*1214C>A
NM_152419.3(HGSNAT):c.*1215C>T rs571287184
NM_152419.3(HGSNAT):c.*1219G>A
NM_152419.3(HGSNAT):c.*1251C>A rs756060730
NM_152419.3(HGSNAT):c.*1331T>A rs543569352
NM_152419.3(HGSNAT):c.*1378C>T rs886062960
NM_152419.3(HGSNAT):c.*1436A>G rs373032953
NM_152419.3(HGSNAT):c.*149G>T rs191719106
NM_152419.3(HGSNAT):c.*1584A>G
NM_152419.3(HGSNAT):c.*160C>T rs886062955
NM_152419.3(HGSNAT):c.*1696T>G
NM_152419.3(HGSNAT):c.*1750C>T rs886062961
NM_152419.3(HGSNAT):c.*1841G>A rs886062962
NM_152419.3(HGSNAT):c.*1854C>T rs567024411
NM_152419.3(HGSNAT):c.*1925A>G
NM_152419.3(HGSNAT):c.*196T>G rs886062956
NM_152419.3(HGSNAT):c.*2068A>G rs141499920
NM_152419.3(HGSNAT):c.*2233G>A rs372413542
NM_152419.3(HGSNAT):c.*2266G>T rs75120048
NM_152419.3(HGSNAT):c.*2305A>G rs886062963
NM_152419.3(HGSNAT):c.*2341G>A rs143662681
NM_152419.3(HGSNAT):c.*2434G>A
NM_152419.3(HGSNAT):c.*2472G>C
NM_152419.3(HGSNAT):c.*2502A>G rs763278248
NM_152419.3(HGSNAT):c.*2538A>G
NM_152419.3(HGSNAT):c.*2591G>A
NM_152419.3(HGSNAT):c.*2620A>C
NM_152419.3(HGSNAT):c.*2643G>A rs141803972
NM_152419.3(HGSNAT):c.*2756G>A rs564747354
NM_152419.3(HGSNAT):c.*2801C>G rs886062964
NM_152419.3(HGSNAT):c.*2806G>C
NM_152419.3(HGSNAT):c.*2950A>G
NM_152419.3(HGSNAT):c.*2967C>T
NM_152419.3(HGSNAT):c.*304C>A rs752711559
NM_152419.3(HGSNAT):c.*3086C>T
NM_152419.3(HGSNAT):c.*3176G>A
NM_152419.3(HGSNAT):c.*3198G>A
NM_152419.3(HGSNAT):c.*3241A>G rs886062966
NM_152419.3(HGSNAT):c.*390G>A rs541493842
NM_152419.3(HGSNAT):c.*574C>G
NM_152419.3(HGSNAT):c.*581T>C
NM_152419.3(HGSNAT):c.*612A>C
NM_152419.3(HGSNAT):c.*619T>C
NM_152419.3(HGSNAT):c.*649A>G
NM_152419.3(HGSNAT):c.*772C>G
NM_152419.3(HGSNAT):c.*778T>C
NM_152419.3(HGSNAT):c.*851A>G
NM_152419.3(HGSNAT):c.*857C>T
NM_152419.3(HGSNAT):c.*871C>A
NM_152419.3(HGSNAT):c.-3G>C
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953
NM_152419.3(HGSNAT):c.1128+3G>A
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.371+15T>A rs372920077
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
NM_152419.3(HGSNAT):c.563+3A>G
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His) rs886062954
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)

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