ClinVar Miner

List of variants studied for Craniofrontonasal syndrome by OMIM

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Total variants: 12
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HGVS dbSNP
EFNB1, EX2-5DEL
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) rs587777109

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