List of variants reported as likely pathogenic by Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)	rs1164484724	0.00001
NM_000303.3(PMM2):c.127G>A (p.Val43Met)	rs376754460
NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg)	rs1572851186
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)	rs1559307932
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)	rs1555570093
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)	rs1555570110
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)	rs913477149

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