ClinVar Miner

List of variants studied for Retinitis pigmentosa 68

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020949.3(SLC7A14):c.1116-12C>T rs1861939 0.48925
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=) rs3732449 0.29156
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg) rs144541220 0.00614
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) rs2276717 0.00058
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755 0.00044
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe) rs753129566 0.00021
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=) rs199942498 0.00001
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val) rs587777272
NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val) rs587777273

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