ClinVar Miner

List of variants reported as likely benign for obsolete Chitotriosidase deficiency

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_003465.2(CHIT1):c.-81G>A rs115551220 0.03407
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208 0.02564
NM_003465.3(CHIT1):c.1033A>G (p.Ser345Gly) rs137954453 0.00126
NM_003465.3(CHIT1):c.729+5G>A rs146112390 0.00123
NM_003465.3(CHIT1):c.915A>G (p.Glu305=) rs148451620 0.00121
NM_003465.3(CHIT1):c.206C>T (p.Thr69Ile) rs141978567 0.00096
NM_003465.3(CHIT1):c.200G>T (p.Ser67Ile) rs555489365 0.00050
NM_003465.3(CHIT1):c.605+10A>T rs368307246 0.00039
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser) rs151004649 0.00019
NM_003465.3(CHIT1):c.369C>T (p.Ala123=) rs188371763 0.00018
NM_003465.3(CHIT1):c.480+12C>T rs201180236 0.00017
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.25+7C>T rs757187427 0.00001
NM_003465.3(CHIT1):c.258-11G>A rs369336966 0.00001
NM_003465.3(CHIT1):c.480+17C>T rs773980064 0.00001
NM_003465.3(CHIT1):c.726C>T (p.Asn242=) rs368107800 0.00001
NM_003465.3(CHIT1):c.1098C>T (p.Ala366=)
NM_003465.3(CHIT1):c.1191T>C (p.Leu397=)
NM_003465.3(CHIT1):c.1344A>G (p.Gln448=)
NM_003465.3(CHIT1):c.168C>T (p.Tyr56=)
NM_003465.3(CHIT1):c.219C>T (p.Asp73=)
NM_003465.3(CHIT1):c.231C>T (p.Tyr77=) rs1170791356
NM_003465.3(CHIT1):c.25+11G>A
NM_003465.3(CHIT1):c.25+8G>A
NM_003465.3(CHIT1):c.25+8G>T
NM_003465.3(CHIT1):c.288C>T (p.Ile96=)
NM_003465.3(CHIT1):c.303C>T (p.Phe101=)
NM_003465.3(CHIT1):c.481-15G>A
NM_003465.3(CHIT1):c.510C>G (p.Ala170=)
NM_003465.3(CHIT1):c.55+20G>T
NM_003465.3(CHIT1):c.56-9A>G
NM_003465.3(CHIT1):c.708T>C (p.Gly236=)
NM_003465.3(CHIT1):c.717C>T (p.Ala239=)
NM_003465.3(CHIT1):c.720C>T (p.Ser240=)
NM_003465.3(CHIT1):c.747G>A (p.Gln249=) rs1403876953
NM_003465.3(CHIT1):c.802G>A (p.Gly268Arg)
NM_003465.3(CHIT1):c.981G>A (p.Arg327=)

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