List of variants in gene RAB34 reported as pathogenic for Orofaciodigital syndrome 20

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)	rs750408092	0.00003
NM_031934.6(RAB34):c.605G>T (p.Gly202Val)	rs370068278	0.00002
NM_031934.6(RAB34):c.632G>A (p.Arg211His)	rs910197266	0.00001
NM_031934.6(RAB34):c.652G>A (p.Glu218Lys)	rs2544303152
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)	rs757465924

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