List of variants reported as pathogenic for blepharophimosis - intellectual disability syndrome by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)	rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)	rs387907362
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	rs1085307941
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs)	rs199470468
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter)	rs199470476
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs)	rs199470479
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs)	rs387907364
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs)	rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)	rs199470484
NM_012330.4(KAT6B):c.847-2A>G	rs1841745686

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