ClinVar Miner

List of variants in gene FLVCR1 reported as pathogenic for Posterior column ataxia-retinitis pigmentosa syndrome

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Total variants: 5
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HGVS dbSNP
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819

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