ClinVar Miner

List of variants reported as uncertain significance for Orofaciodigital syndrome I; Retinitis Pigmentosa 23; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 by Fulgent Genetics,Fulgent Genetics

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Total variants: 2
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NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684

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