ClinVar Miner

List of variants in gene CHIT1 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 7
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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.1060G>A (p.Gly354Arg) rs9943208 0.02564
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.1155G>A (p.Leu385=) rs200625369 0.00002
NM_003465.3(CHIT1):c.1155_1156+2del rs143439055
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val) rs1065761

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