ClinVar Miner

List of variants in gene MLC1 reported by GeneReviews

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.925C>A (p.Leu309Met) rs80358240 0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.298_423+108del rs1555967644
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952

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