ClinVar Miner

List of variants studied for Occipital pachygyria and polymicrogyria by New York Genome Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006059.4(LAMC3):c.340T>G (p.Tyr114Asp) rs764924966 0.00023
NM_006059.4(LAMC3):c.4256G>A (p.Arg1419Gln) rs201597071 0.00016
NM_006059.4(LAMC3):c.1757T>C (p.Leu586Pro) rs568225117 0.00005
NM_006059.4(LAMC3):c.607G>A (p.Gly203Ser) rs759660042 0.00001
NM_006059.4(LAMC3):c.3211+2T>C rs2133322852
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup) rs1057520165

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