ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as likely benign for Late-onset retinal degeneration

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.*1237G>A rs148291350 0.00207
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.*483T>C rs147285871 0.00143
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.-49G>A rs201954533 0.00058
NM_001278431.2(C1QTNF5):c.214+9G>A rs771777653 0.00039
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_031433.4(MFRP):c.*1190C>T rs540768941 0.00001
NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu)
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193

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