ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu) rs2075714342
NM_006306.4(SMC1A):c.1996T>C (p.Trp666Arg) rs1057518859
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923

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