List of variants studied for Lethal occipital encephalocele-skeletal dysplasia syndrome

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_019885.4(CYP26B1):c.1190G>A (p.Arg397Gln)	rs756077143	0.00001
NM_019885.4(CYP26B1):c.344C>T (p.Thr115Ile)	rs1281765906	0.00001
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)	rs281875231
NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr)	rs1676614895
NM_019885.4(CYP26B1):c.3G>T (p.Met1Ile)
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro)	rs281875232
NM_019885.4(CYP26B1):c.584G>A (p.Arg195Gln)
NM_019885.4(CYP26B1):c.731A>G (p.Gln244Arg)
NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)

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