ClinVar Miner

List of variants in gene EFNB1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
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Total variants: 23
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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.128+2T>A rs1556096780
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
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.271A>C (p.Thr91Pro) rs1057519032
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) rs1057519033
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.466C>T (p.Arg156Cys) rs1057519034
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
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) rs1556107925
NM_004429.4(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) rs16989105
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326

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