List of variants reported as pathogenic for autosomal anomaly by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4
NC_000005.9:g.(?_88625195)_(90796047_?)inv
NC_012920.1:m.9185T>C	rs199476138
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs)	rs2108971782
NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)	rs2100414066
NM_001172509.2(SATB2):c.1153del (p.Val385fs)	rs2105822848
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	rs1057518190
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)	rs2136047948
NM_006940.6(SOX5):c.755dup (p.Gln253fs)	rs2140907114
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)	rs2149847258
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	rs587784190
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	rs587784200

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