ClinVar Miner

List of variants studied for Schizencephaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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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.593G>A (p.Cys198Tyr)	rs1803267843

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