ClinVar Miner

List of variants in gene RIPOR2 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001286445.3(RIPOR2):c.2895A>G (p.Leu965=) rs61733143 0.03439
NM_001286445.3(RIPOR2):c.1207G>A (p.Glu403Lys) rs34016544 0.03314
NM_001286445.3(RIPOR2):c.1495C>T (p.Arg499Cys) rs35780910 0.03306
NM_001286445.3(RIPOR2):c.1292C>G (p.Ser431Cys) rs34298086 0.02703
NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile) rs61741706 0.02466
NM_001286445.3(RIPOR2):c.521C>G (p.Ala174Gly) rs11967003 0.02425
NM_001286445.3(RIPOR2):c.1858-1486C>T rs75574668 0.02364
NM_001286445.3(RIPOR2):c.1164+402C>G rs74477879 0.02339
NM_001286445.3(RIPOR2):c.1086A>G (p.Ala362=) rs35698586 0.02330
NM_001286445.3(RIPOR2):c.1072G>T (p.Ala358Ser) rs35254980 0.02121
NM_001286445.3(RIPOR2):c.2507-6G>A rs144190405 0.01260
NM_001286445.3(RIPOR2):c.715+8T>C rs35730227 0.00970
NM_001286446.3(RIPOR2):c.43T>C (p.Trp15Arg) rs148823241 0.00945
NM_001286445.3(RIPOR2):c.1045G>A (p.Val349Met) rs35331811 0.00913
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) rs189463989 0.00185
NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=) rs568529825 0.00018
NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr) rs201842232 0.00009
NM_001286445.3(RIPOR2):c.1858-1422G>T rs928982652 0.00004
NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=) rs2295197
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802

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