ClinVar Miner

List of variants in gene CHIT1 reported as affects

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Total variants: 4
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HGVS dbSNP
CHIT1, 24-BP DUP
CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys) rs137852607
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950

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