List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome by Istanbul Faculty of Medicine, Istanbul University

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_021922.3(FANCE):c.1509+1G>A	rs745877509	0.00001
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)	rs1158456786
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	rs1363946483
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)	rs2078112057
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)

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