List of variants reported as uncertain significance for Schizencephaly

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.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

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