ClinVar Miner

List of variants in gene MLC1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.710T>A (p.Val237Glu) rs765967624 0.00002
NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr) rs528700157 0.00001
NC_000022.10:g.(50500087_50502462)_(50524359_?)dup
NM_015166.4(MLC1):c.268T>G (p.Cys90Gly)
NM_015166.4(MLC1):c.359C>T (p.Ala120Val) rs865879286
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481

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