List of variants studied for 12p12.1 microdeletion syndrome by Baylor Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006940.6(SOX5):c.1226C>A (p.Pro409His)	rs1565958110	0.00001
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)	rs869025321
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)	rs754590341
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)	rs780885506
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	rs1592099852
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)	rs2097171827
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile)	rs772035716
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu)	rs1217393451
NM_006940.6(SOX5):c.798G>T (p.Gln266His)	rs2093521806

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