ClinVar Miner

List of variants studied for Bothnia retinal dystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000326.5(RLBP1):c.684+20C>T rs950541 0.30776
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000326.5(RLBP1):c.203del (p.Glu68fs)
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro)
NM_000326.5(RLBP1):c.467G>A (p.Arg156Gln)
NM_000326.5(RLBP1):c.685-2A>G
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990

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