ClinVar Miner

List of variants reported as benign for Chitotriosidase deficiency

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_003465.3(CHIT1):c.*534T>G rs73066394 0.07143
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208 0.02564
NM_003465.3(CHIT1):c.764C>G (p.Thr255Ser) rs61745299 0.00985
NM_003465.3(CHIT1):c.119G>A (p.Arg40His) rs35920428 0.00936
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.258-6T>C rs184235051 0.00223
NM_003465.3(CHIT1):c.26-15C>T rs201870197 0.00180
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
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_003465.3(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.1156+4A>G rs2297947 0.00029
NM_003465.3(CHIT1):c.765C>A (p.Thr255=) rs143518872 0.00025
NM_003465.3(CHIT1):c.445G>T (p.Ala149Ser) rs117678693 0.00024
NM_003465.3(CHIT1):c.56-6G>A rs190551025 0.00019
NM_003465.3(CHIT1):c.461G>A (p.Arg154His) rs568595374 0.00016
NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met) rs374021722 0.00014
NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu) rs372939622 0.00013
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.382C>T (p.Arg128Cys) rs377403883 0.00006
NM_003465.3(CHIT1):c.1059C>T (p.Gly353=) rs147080247 0.00004
NM_003465.3(CHIT1):c.243T>G (p.Asn81Lys) rs768505099 0.00004
NM_003465.3(CHIT1):c.548C>T (p.Ala183Val) rs377276949 0.00004
NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser) rs752379824 0.00003
NM_003465.3(CHIT1):c.335C>T (p.Thr112Met) rs370359172 0.00003
NM_003465.3(CHIT1):c.263C>G (p.Pro88Arg) rs780037348 0.00002
NM_003465.3(CHIT1):c.678C>A (p.Ser226Arg) rs193156676 0.00002
NM_003465.3(CHIT1):c.702G>T (p.Glu234Asp) rs199819924 0.00002
NM_003465.3(CHIT1):c.365C>T (p.Ser122Leu) rs757305430 0.00001
NM_003465.3(CHIT1):c.105A>T (p.Arg35Ser)
NM_003465.3(CHIT1):c.1126C>T (p.Pro376Ser)
NM_003465.3(CHIT1):c.1144C>T (p.Arg382Trp)
NM_003465.3(CHIT1):c.1155_1156+2del rs143439055
NM_003465.3(CHIT1):c.1325C>G (p.Ala442Gly) rs1065761
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val) rs1065761
NM_003465.3(CHIT1):c.1358G>T (p.Gly453Val) rs371328957
NM_003465.3(CHIT1):c.164T>A (p.Ile55Asn)
NM_003465.3(CHIT1):c.175G>A (p.Ala59Thr)
NM_003465.3(CHIT1):c.181A>G (p.Met61Val)
NM_003465.3(CHIT1):c.258-3C>T
NM_003465.3(CHIT1):c.289G>A (p.Gly97Arg)
NM_003465.3(CHIT1):c.31A>G (p.Met11Val)
NM_003465.3(CHIT1):c.435G>C (p.Gln145His)
NM_003465.3(CHIT1):c.481-6C>A
NM_003465.3(CHIT1):c.483C>G (p.Asp161Glu)
NM_003465.3(CHIT1):c.493G>A (p.Ala165Thr)
NM_003465.3(CHIT1):c.501G>A (p.Gln167=)
NM_003465.3(CHIT1):c.529C>T (p.Arg177Cys) rs200777680
NM_003465.3(CHIT1):c.543T>G (p.Ser181Arg)
NM_003465.3(CHIT1):c.578C>G (p.Ala193Gly)
NM_003465.3(CHIT1):c.631G>A (p.Ala211Thr)
NM_003465.3(CHIT1):c.665C>T (p.Thr222Met)
NM_003465.3(CHIT1):c.69A>T (p.Lys23Asn)
NM_003465.3(CHIT1):c.727G>A (p.Val243Met)
NM_003465.3(CHIT1):c.769G>T (p.Ala257Ser)
NM_003465.3(CHIT1):c.8G>C (p.Arg3Pro)
NM_003465.3(CHIT1):c.900G>A (p.Met300Ile)
NM_003465.3(CHIT1):c.917T>C (p.Val306Ala)
NM_003465.3(CHIT1):c.965_993del (p.Val322fs) rs536102546
NM_003465.3(CHIT1):c.980G>A (p.Arg327Gln)

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