List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 66

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)	rs1468772495	0.00005
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)	rs374645146	0.00003
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)	rs1943353362
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_020374.4(FERRY3):c.527_528del (p.Lys176fs)

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