ClinVar Miner

List of variants reported as uncertain significance for obsolete Chitotriosidase deficiency

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_003465.2(CHIT1):c.-71G>A rs11800196 0.01398
NM_003465.3(CHIT1):c.*119C>T rs56391640 0.00741
NM_003465.3(CHIT1):c.56-8C>T rs116389839 0.00696
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=) rs73066396 0.00675
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=) rs73066400 0.00427
NM_003465.3(CHIT1):c.780G>A (p.Leu260=) rs145366738 0.00397
NM_003465.3(CHIT1):c.759G>A (p.Lys253=) rs138767766 0.00396
NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser) rs183706407 0.00386
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys) rs137852607 0.00342
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492 0.00272
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
NM_003465.3(CHIT1):c.*743C>G rs541251343 0.00093
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser) rs141079733 0.00082
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser) rs146692911 0.00081
NM_003465.2(CHIT1):c.-77C>T rs375445198 0.00080
NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn) rs140228721 0.00054
NM_003465.3(CHIT1):c.513G>T (p.Gln171His) rs12562058 0.00053
NM_003465.3(CHIT1):c.*782C>T rs192633567 0.00047
NM_003465.3(CHIT1):c.605+10A>T rs368307246 0.00039
NM_003465.3(CHIT1):c.*124A>C rs761217387 0.00033
NM_003465.3(CHIT1):c.1156+4A>G rs2297947 0.00029
NM_003465.3(CHIT1):c.*85G>A rs78739067 0.00024
NM_003465.3(CHIT1):c.445G>T (p.Ala149Ser) rs117678693 0.00024
NM_003465.3(CHIT1):c.314+1G>T rs201510066 0.00023
NM_003465.3(CHIT1):c.1145G>A (p.Arg382Gln) rs139939985 0.00022
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser) rs151004649 0.00019
NM_003465.3(CHIT1):c.55G>A (p.Gly19Ser) rs201347216 0.00019
NM_003465.3(CHIT1):c.56-6G>A rs190551025 0.00019
NM_003465.3(CHIT1):c.480+12C>T rs201180236 0.00017
NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met) rs374021722 0.00014
NM_003465.3(CHIT1):c.-13G>A rs370076959 0.00011
NM_003465.3(CHIT1):c.1326G>A (p.Ala442=) rs186594769 0.00011
NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp) rs144422918 0.00010
NM_003465.3(CHIT1):c.400G>A (p.Gly134Ser) rs374580719 0.00010
NM_003465.3(CHIT1):c.984C>T (p.Asp328=) rs2275533 0.00009
NM_003465.3(CHIT1):c.1294C>T (p.Arg432Trp) rs199572557 0.00008
NM_003465.3(CHIT1):c.169G>A (p.Ala57Thr) rs200630872 0.00008
NM_003465.3(CHIT1):c.366G>A (p.Ser122=) rs367910344 0.00007
NM_003465.3(CHIT1):c.549G>A (p.Ala183=) rs371464440 0.00007
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln) rs202003206 0.00006
NM_003465.3(CHIT1):c.382C>T (p.Arg128Cys) rs377403883 0.00006
NM_003465.3(CHIT1):c.346C>T (p.Arg116Cys) rs780332677 0.00005
NM_003465.2(CHIT1):c.-40G>A rs375531046 0.00004
NM_003465.3(CHIT1):c.1309T>C (p.Phe437Leu) rs769451842 0.00004
NM_003465.3(CHIT1):c.26-4C>A rs753899130 0.00004
NM_003465.3(CHIT1):c.460C>T (p.Arg154Cys) rs142999142 0.00004
NM_003465.3(CHIT1):c.*403G>A rs1441690560 0.00003
NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser) rs752379824 0.00003
NM_003465.3(CHIT1):c.1352C>G (p.Pro451Arg) rs200995061 0.00003
NM_003465.3(CHIT1):c.52T>C (p.Trp18Arg) rs886045833 0.00003
NM_003465.3(CHIT1):c.767C>T (p.Pro256Leu) rs182143561 0.00003
NM_003465.3(CHIT1):c.838A>T (p.Arg280Ter) rs745573331 0.00003
NM_003465.3(CHIT1):c.*143A>G rs368913199 0.00002
NM_003465.3(CHIT1):c.314+14G>A rs773126401 0.00002
NM_003465.2(CHIT1):c.-54G>A rs772846697 0.00001
NM_003465.3(CHIT1):c.*599C>G rs376701295 0.00001
NM_003465.3(CHIT1):c.*754A>C rs1236089253 0.00001
NM_003465.3(CHIT1):c.*99G>A rs770846687 0.00001
NM_003465.3(CHIT1):c.107_108del (p.Gln36fs) rs756858939 0.00001
NM_003465.3(CHIT1):c.178G>A (p.Gly60Ser) rs374115648 0.00001
NM_003465.3(CHIT1):c.365C>T (p.Ser122Leu) rs757305430 0.00001
NM_003465.3(CHIT1):c.*238C>T rs1656539475
NM_003465.3(CHIT1):c.*280G>C rs140728916
NM_003465.3(CHIT1):c.*450G>A rs1369299780
NM_003465.3(CHIT1):c.*57C>T rs886045831
NM_003465.3(CHIT1):c.*729T>C rs886045830
NM_003465.3(CHIT1):c.1073G>A (p.Trp358Ter) rs201320385
NM_003465.3(CHIT1):c.1076C>G (p.Ala359Gly) rs201682373
NM_003465.3(CHIT1):c.1090G>A (p.Asp364Asn) rs770731880
NM_003465.3(CHIT1):c.1121G>T (p.Arg374Leu) rs750793447
NM_003465.3(CHIT1):c.1155_1156+2del rs143439055
NM_003465.3(CHIT1):c.1281C>G (p.Leu427=) rs886045832
NM_003465.3(CHIT1):c.1325C>A (p.Ala442Glu) rs1065761
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val) rs1065761
NM_003465.3(CHIT1):c.1356A>G (p.Thr452=) rs759297490
NM_003465.3(CHIT1):c.189C>A (p.Asn63Lys) rs569180795
NM_003465.3(CHIT1):c.383G>A (p.Arg128His) rs772756608
NM_003465.3(CHIT1):c.421T>A (p.Tyr141Asn) rs749852330
NM_003465.3(CHIT1):c.480+13G>A rs761503836
NM_003465.3(CHIT1):c.605+1G>A rs1558161210
NM_003465.3(CHIT1):c.739G>A (p.Val247Met) rs1656669997
NM_003465.3(CHIT1):c.807C>T (p.Arg269=) rs560698644
NM_003465.3(CHIT1):c.916-9C>G rs1656648423

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