ClinVar Miner

List of variants studied for Schizencephaly

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_005413.4(SIX3):c.499G>T (p.Ala167Ser) rs387906868 0.00003
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_005413.4(SIX3):c.208T>C (p.Ser70Pro) rs1314811261 0.00001
NM_000193.4(SHH):c.44C>A (p.Ser15Ter)
NM_000193.4(SHH):c.593G>A (p.Cys198Tyr) rs1803267843
NM_000193.4(SHH):c.736G>T (p.Asp246Tyr)
NM_004098.4(EMX2):c.112T>C (p.Tyr38His) rs1846522635
NM_004098.4(EMX2):c.161CCG[8] (p.Ala58_Ala59dup) rs756693906
NM_004098.4(EMX2):c.231C>G (p.His77Gln) rs1846525919
NM_004098.4(EMX2):c.260C>T (p.Pro87Leu) rs754788682
NM_004098.4(EMX2):c.407-1G>A rs1564751655
NM_004098.4(EMX2):c.407-4G>T rs1411887961
NM_004098.4(EMX2):c.407G>T (p.Gly136Val) rs755549724
NM_004098.4(EMX2):c.575_576insA (p.Ser192fs) rs2133969658
NM_005413.4(SIX3):c.385G>T (p.Glu129Ter) rs387906867

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