ClinVar Miner

List of variants in gene EFCAB10, RINT1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_021930.6(RINT1):c.2067+13A>C rs864687 0.10655
NM_021930.6(RINT1):c.2068-22T>C rs861761 0.10556
NM_021930.6(RINT1):c.2370T>C (p.Thr790=) rs36058979 0.01617
NM_021930.6(RINT1):c.1978C>A (p.Leu660Ile) rs35531972 0.00968
NM_001355526.2(EFCAB10):c.384-16A>T rs112914598 0.00735
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu) rs34310648 0.00537
NM_021930.6(RINT1):c.2003T>C (p.Phe668Ser) rs35971380 0.00312
NM_021930.6(RINT1):c.1962G>A (p.Thr654=) rs139532717 0.00147
NM_021930.6(RINT1):c.2176T>C (p.Tyr726His) rs144371182 0.00061
NM_021930.6(RINT1):c.2068-17A>G rs370890616 0.00047
NM_021930.6(RINT1):c.2184A>G (p.Lys728=) rs367923152 0.00020
NM_021930.6(RINT1):c.2032C>T (p.Leu678Phe) rs185684106 0.00014
NM_021930.6(RINT1):c.1985T>C (p.Leu662Ser) rs139459919 0.00011
NM_021930.6(RINT1):c.2334G>C (p.Glu778Asp) rs184378923 0.00007
NM_021930.6(RINT1):c.2179T>C (p.Phe727Leu) rs539601125 0.00006
NM_021930.6(RINT1):c.1941G>A (p.Ser647=) rs1030845401 0.00005
NM_021930.6(RINT1):c.2371G>A (p.Gly791Arg) rs543042477 0.00005
NM_021930.6(RINT1):c.2068A>G (p.Ile690Val) rs200446656 0.00004
NM_021930.6(RINT1):c.2186+6C>T rs201369477 0.00004
NM_021930.6(RINT1):c.2221G>A (p.Val741Ile) rs749732262 0.00004
NM_021930.6(RINT1):c.2253G>T (p.Leu751=) rs760695096 0.00004
NM_021930.6(RINT1):c.1940C>T (p.Ser647Leu) rs187666745 0.00003
NM_021930.6(RINT1):c.1950G>A (p.Pro650=) rs147409665 0.00003
NM_021930.6(RINT1):c.2136T>C (p.Leu712=) rs765770922 0.00003
NM_021930.6(RINT1):c.2193A>G (p.Lys731=) rs758183598 0.00003
NM_021930.6(RINT1):c.1887-15A>G rs771142191 0.00002
NM_021930.6(RINT1):c.1910C>T (p.Ser637Leu) rs761520355 0.00002
NM_021930.6(RINT1):c.1949C>T (p.Pro650Leu) rs778220756 0.00002
NM_021930.6(RINT1):c.1966C>T (p.Arg656Ter) rs780062646 0.00002
NM_021930.6(RINT1):c.1973A>G (p.His658Arg) rs200970042 0.00002
NM_021930.6(RINT1):c.2129G>A (p.Arg710Gln) rs1200845297 0.00002
NM_021930.6(RINT1):c.2248del (p.Val750fs) rs758122010 0.00002
NM_021930.6(RINT1):c.2361G>A (p.Trp787Ter) rs747595808 0.00002
NM_021930.6(RINT1):c.1887-12T>G rs774643074 0.00001
NM_021930.6(RINT1):c.1902A>G (p.Pro634=) rs776280054 0.00001
NM_021930.6(RINT1):c.1920_1922del (p.Val641del) rs1267285265 0.00001
NM_021930.6(RINT1):c.1953G>A (p.Leu651=) rs1265891367 0.00001
NM_021930.6(RINT1):c.1961C>T (p.Thr654Met) rs986540926 0.00001
NM_021930.6(RINT1):c.1967G>A (p.Arg656Gln) rs746864752 0.00001
NM_021930.6(RINT1):c.1984T>C (p.Leu662=) rs772697416 0.00001
NM_021930.6(RINT1):c.2004C>T (p.Phe668=) rs1285881734 0.00001
NM_021930.6(RINT1):c.2016A>C (p.Lys672Asn) rs754306128 0.00001
NM_021930.6(RINT1):c.2021T>C (p.Phe674Ser) rs757668486 0.00001
NM_021930.6(RINT1):c.2050G>A (p.Val684Ile) rs768627748 0.00001
NM_021930.6(RINT1):c.2058C>T (p.Ile686=) rs747965842 0.00001
NM_021930.6(RINT1):c.2067+18G>A rs952224777 0.00001
NM_021930.6(RINT1):c.2085C>A (p.His695Gln) rs997658204 0.00001
NM_021930.6(RINT1):c.2134C>G (p.Leu712Val) rs139766063 0.00001
NM_021930.6(RINT1):c.2156A>G (p.Tyr719Cys) rs766540386 0.00001
NM_021930.6(RINT1):c.2160C>G (p.Cys720Trp) rs755060169 0.00001
NM_021930.6(RINT1):c.2165G>A (p.Arg722Lys) rs767516791 0.00001
NM_021930.6(RINT1):c.2168C>G (p.Pro723Arg) rs1358955017 0.00001
NM_021930.6(RINT1):c.2186+19A>G rs1238282467 0.00001
NM_021930.6(RINT1):c.2187-2A>G rs757017331 0.00001
NM_021930.6(RINT1):c.2187-6A>G rs1289536003 0.00001
NM_021930.6(RINT1):c.2187T>C (p.His729=) rs928088575 0.00001
NM_021930.6(RINT1):c.2219A>T (p.Asn740Ile) rs1586278310 0.00001
NM_021930.6(RINT1):c.2220C>T (p.Asn740=) rs202008558 0.00001
NM_021930.6(RINT1):c.2224G>A (p.Gly742Ser) rs759874948 0.00001
NM_021930.6(RINT1):c.2254C>T (p.Gln752Ter) rs1294898146 0.00001
NM_021930.6(RINT1):c.2280C>T (p.Ala760=) rs761878602 0.00001
NM_021930.6(RINT1):c.2288C>T (p.Ala763Val) rs1450417616 0.00001
NM_021930.6(RINT1):c.2300T>C (p.Val767Ala) rs1791803926 0.00001
NM_021930.6(RINT1):c.2318C>T (p.Ala773Val) rs754448407 0.00001
NM_021930.6(RINT1):c.2320C>G (p.Gln774Glu) rs1231340123 0.00001
NM_021930.6(RINT1):c.2335A>T (p.Ile779Phe) rs1296819896 0.00001
NM_021930.6(RINT1):c.2352G>C (p.Arg784Ser) rs1262999211 0.00001
NM_021930.6(RINT1):c.2363C>T (p.Pro788Leu) rs199604799 0.00001
NC_000007.13:g.(?_105172753)_(105207768_?)dup
NM_021930.6(RINT1):c.1887-13G>A
NM_021930.6(RINT1):c.1887-4_1892del
NM_021930.6(RINT1):c.1887-5dup rs770175502
NM_021930.6(RINT1):c.1887-6T>C
NM_021930.6(RINT1):c.1917G>C (p.Gln639His)
NM_021930.6(RINT1):c.1920A>T (p.Ala640=) rs2133475535
NM_021930.6(RINT1):c.1924A>T (p.Met642Leu) rs1060503044
NM_021930.6(RINT1):c.1927T>A (p.Ser643Thr)
NM_021930.6(RINT1):c.1936A>T (p.Ser646Cys) rs1791661472
NM_021930.6(RINT1):c.1937G>C (p.Ser646Thr) rs1396876913
NM_021930.6(RINT1):c.1938T>C (p.Ser646=) rs2133476107
NM_021930.6(RINT1):c.1950G>T (p.Pro650=)
NM_021930.6(RINT1):c.1952T>G (p.Leu651Trp) rs1220266082
NM_021930.6(RINT1):c.1961C>A (p.Thr654Lys) rs986540926
NM_021930.6(RINT1):c.1962G>T (p.Thr654=)
NM_021930.6(RINT1):c.1966C>G (p.Arg656Gly)
NM_021930.6(RINT1):c.1971C>G (p.Asp657Glu)
NM_021930.6(RINT1):c.1975T>A (p.Leu659Ile)
NM_021930.6(RINT1):c.1978C>T (p.Leu660Phe) rs35531972
NM_021930.6(RINT1):c.1985_1986insAGAG (p.Gln664fs) rs1586272463
NM_021930.6(RINT1):c.1994A>G (p.Gln665Arg) rs1791667727
NM_021930.6(RINT1):c.1998T>C (p.Leu666=) rs753248481
NM_021930.6(RINT1):c.1998_1999del (p.Cys667fs) rs1791668026
NM_021930.6(RINT1):c.2011T>C (p.Phe671Leu) rs949105262
NM_021930.6(RINT1):c.2012T>C (p.Phe671Ser) rs2133477666
NM_021930.6(RINT1):c.2019T>C (p.Ile673=)
NM_021930.6(RINT1):c.2021del (p.Phe674fs) rs2133477788
NM_021930.6(RINT1):c.2026C>G (p.Gln676Glu) rs779310406
NM_021930.6(RINT1):c.2029A>G (p.Met677Val) rs758518451
NM_021930.6(RINT1):c.2036T>C (p.Val679Ala) rs1791671293
NM_021930.6(RINT1):c.2045T>C (p.Leu682Pro)
NM_021930.6(RINT1):c.2047_2050dup (p.Val684fs) rs1791672042
NM_021930.6(RINT1):c.2050G>T (p.Val684Leu) rs768627748
NM_021930.6(RINT1):c.2052A>T (p.Val684=)
NM_021930.6(RINT1):c.2056A>C (p.Ile686Leu)
NM_021930.6(RINT1):c.2067+11A>G
NM_021930.6(RINT1):c.2067+14G>T
NM_021930.6(RINT1):c.2067+6_2067+9del rs761799563
NM_021930.6(RINT1):c.2068-11_2068-8del rs1791680385
NM_021930.6(RINT1):c.2080A>C (p.Asn694His) rs2133479700
NM_021930.6(RINT1):c.2084A>G (p.His695Arg) rs1791681745
NM_021930.6(RINT1):c.2087del (p.Phe696fs) rs2133479924
NM_021930.6(RINT1):c.2090A>G (p.Asn697Ser) rs777493133
NM_021930.6(RINT1):c.2095G>A (p.Gly699Arg) rs2133480083
NM_021930.6(RINT1):c.2097A>C (p.Gly699=) rs1586273242
NM_021930.6(RINT1):c.2109G>C (p.Gln703His)
NM_021930.6(RINT1):c.2112G>A (p.Leu704=)
NM_021930.6(RINT1):c.2126C>T (p.Thr709Ile) rs1060503048
NM_021930.6(RINT1):c.2128C>T (p.Arg710Trp) rs777291719
NM_021930.6(RINT1):c.2130G>C (p.Arg710=)
NM_021930.6(RINT1):c.2141C>G (p.Pro714Arg) rs1433678307
NM_021930.6(RINT1):c.2145G>A (p.Leu715=)
NM_021930.6(RINT1):c.2149T>A (p.Ser717Thr) rs1060503047
NM_021930.6(RINT1):c.2149T>G (p.Ser717Ala) rs1060503047
NM_021930.6(RINT1):c.2150del (p.Ser717fs) rs1377539690
NM_021930.6(RINT1):c.2152C>G (p.His718Asp) rs2133481242
NM_021930.6(RINT1):c.2154C>T (p.His718=)
NM_021930.6(RINT1):c.2157T>C (p.Tyr719=) rs1791689316
NM_021930.6(RINT1):c.2159G>A (p.Cys720Tyr) rs201892348
NM_021930.6(RINT1):c.2159G>T (p.Cys720Phe) rs201892348
NM_021930.6(RINT1):c.2161A>G (p.Lys721Glu) rs1562862416
NM_021930.6(RINT1):c.2181dup (p.Lys728Ter)
NM_021930.6(RINT1):c.2182A>T (p.Lys728Ter) rs2133481694
NM_021930.6(RINT1):c.2183A>T (p.Lys728Ile)
NM_021930.6(RINT1):c.2186+15T>C rs2133481918
NM_021930.6(RINT1):c.2186+26_2186+31del
NM_021930.6(RINT1):c.2186A>G (p.His729Arg) rs1791692720
NM_021930.6(RINT1):c.2187-10C>A rs760779859
NM_021930.6(RINT1):c.2187-11T>C
NM_021930.6(RINT1):c.2187-18T>C
NM_021930.6(RINT1):c.2187-3C>T rs2133495282
NM_021930.6(RINT1):c.2187-4A>T rs367666777
NM_021930.6(RINT1):c.2187-6A>T rs1289536003
NM_021930.6(RINT1):c.2188A>G (p.Ile730Val)
NM_021930.6(RINT1):c.2192AAG[1] (p.Glu732del) rs1791795781
NM_021930.6(RINT1):c.2196A>G (p.Glu732=)
NM_021930.6(RINT1):c.2200T>C (p.Cys734Arg) rs2133495735
NM_021930.6(RINT1):c.2207T>C (p.Val736Ala)
NM_021930.6(RINT1):c.2210del (p.Val736_Leu737insTer) rs2133495823
NM_021930.6(RINT1):c.2212A>G (p.Asn738Asp) rs2133495845
NM_021930.6(RINT1):c.2220C>A (p.Asn740Lys)
NM_021930.6(RINT1):c.2221G>T (p.Val741Phe) rs749732262
NM_021930.6(RINT1):c.2228C>A (p.Ser743Tyr)
NM_021930.6(RINT1):c.2237T>C (p.Leu746Pro) rs2133496226
NM_021930.6(RINT1):c.2243A>T (p.Lys748Ile)
NM_021930.6(RINT1):c.2255A>C (p.Gln752Pro) rs919181672
NM_021930.6(RINT1):c.2259_2265dup (p.Gly756fs) rs1791801428
NM_021930.6(RINT1):c.2301T>A (p.Val767=)
NM_021930.6(RINT1):c.2303G>C (p.Gly768Ala) rs2133497355
NM_021930.6(RINT1):c.2303_2304delinsAC (p.Gly768Asp)
NM_021930.6(RINT1):c.2312A>G (p.Lys771Arg) rs1791804534
NM_021930.6(RINT1):c.2320C>T (p.Gln774Ter) rs1231340123
NM_021930.6(RINT1):c.2321A>G (p.Gln774Arg)
NM_021930.6(RINT1):c.2322A>G (p.Gln774=) rs1586278776
NM_021930.6(RINT1):c.2323C>T (p.Gln775Ter)
NM_021930.6(RINT1):c.2326_2329del (p.Asp776fs)
NM_021930.6(RINT1):c.2331T>G (p.Val777=)
NM_021930.6(RINT1):c.2336T>C (p.Ile779Thr)
NM_021930.6(RINT1):c.2346T>C (p.Asn782=) rs1586278867
NM_021930.6(RINT1):c.2347T>A (p.Leu783Met)
NM_021930.6(RINT1):c.2351G>A (p.Arg784Lys) rs1441555223
NM_021930.6(RINT1):c.2353del (p.Thr785fs)
NM_021930.6(RINT1):c.2356A>C (p.Asn786His) rs1791808390
NM_021930.6(RINT1):c.2359del (p.Trp787fs) rs763845178
NM_021930.6(RINT1):c.2362C>G (p.Pro788Ala) rs1060503046
NM_021930.6(RINT1):c.2362C>T (p.Pro788Ser) rs1060503046
NM_021930.6(RINT1):c.2364T>C (p.Pro788=)
NM_021930.6(RINT1):c.2366dup (p.Asn789fs)
NM_021930.6(RINT1):c.2367T>C (p.Asn789=)
NM_021930.6(RINT1):c.2378A>G (p.Ter793=)

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