List of variants in gene EFNB1 reported as likely pathogenic for craniofrontonasal syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004429.5(EFNB1):c.128+1G>C	rs2147973177
NM_004429.5(EFNB1):c.128+5G>A	rs2080439797
NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser)	rs1556105849
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	rs104894801
NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly)	rs2080468583
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)	rs2080439314
NM_004429.5(EFNB1):c.344A>G (p.Gln115Arg)	rs2147976542
NM_004429.5(EFNB1):c.407C>T (p.Ser136Leu)	rs1057519033
NM_004429.5(EFNB1):c.457_458dup (p.Arg154fs)	rs2080471528
NM_004429.5(EFNB1):c.466C>T (p.Arg156Cys)	rs1057519034
NM_004429.5(EFNB1):c.473T>G (p.Met158Arg)	rs2147976769
NM_004429.5(EFNB1):c.499+1G>A	rs1556107481
NM_004429.5(EFNB1):c.499+2_499+7del	rs1602671282
NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter)	rs1556107856
NM_004429.5(EFNB1):c.635_636del (p.Val212fs)	rs2080473382
NM_004429.5(EFNB1):c.67del (p.Arg23fs)

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