ClinVar Miner

List of variants studied for Posterior column ataxia-retinitis pigmentosa syndrome by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001

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