List of variants reported as pathogenic by Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)	rs201111299	0.00009
NM_018451.5(CENPJ):c.289dup (p.Thr97fs)	rs759188041	0.00004
NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)	rs1343140353	0.00001
NM_001042424.3(NSD2):c.1363_1364dup (p.Asp455fs)	rs2108805708
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)	rs1553630457
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer)	rs1569167586
NM_018419.3(SOX18):c.712G>T (p.Glu238Ter)	rs1210062863
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)	rs1567721991
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs)	rs1567690011
NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer)	rs2139419839

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