ClinVar Miner

List of variants studied for Warburg micro syndrome 3 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NG_032035.1:g.(5265_10701)_(10758_27654)del
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832

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