ClinVar Miner

List of variants in gene C7 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.51910
NM_000587.4(C7):c.1759A>C (p.Thr587Pro) rs13157656 0.18623
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_000587.4(C7):c.1676A>G (p.His559Arg) rs141595076 0.00108
NM_000587.4(C7):c.2008G>A (p.Ala670Thr) rs200737768 0.00088
NM_000587.4(C7):c.134C>T (p.Thr45Ile) rs78327832 0.00080
NM_000587.4(C7):c.567+11C>T rs370831179 0.00043
NM_000587.4(C7):c.261G>A (p.Glu87=) rs34119061 0.00037
NM_000587.4(C7):c.1008A>G (p.Lys336=) rs372352727 0.00023
NM_000587.4(C7):c.1287G>A (p.Lys429=) rs199701092 0.00022
NM_000587.4(C7):c.2198G>T (p.Arg733Ile) rs200240917 0.00020
NM_000587.4(C7):c.1617G>A (p.Thr539=) rs368610795 0.00018
NM_000587.4(C7):c.2497A>G (p.Thr833Ala) rs375805678 0.00015
NM_000587.4(C7):c.1261-5T>C rs749503919 0.00012
NM_000587.4(C7):c.1473C>T (p.Leu491=) rs376291154 0.00011
NM_000587.4(C7):c.281-8G>C rs77065783 0.00011
NM_000587.4(C7):c.996C>T (p.Val332=) rs193145035 0.00011
NM_000587.4(C7):c.759T>C (p.Val253=) rs370651306 0.00010
NM_000587.4(C7):c.1094-16G>T rs373431472 0.00009
NM_000587.4(C7):c.1490-4del rs775470168 0.00009
NM_000587.4(C7):c.1661+13C>T rs778962570 0.00009
NM_000587.4(C7):c.428+8G>A rs369745638 0.00009
NM_000587.4(C7):c.7-17T>C rs745807455 0.00008
NM_000587.4(C7):c.2265C>T (p.Tyr755=) rs531120311 0.00007
NM_000587.4(C7):c.321T>C (p.Ser107=) rs371334061 0.00007
NM_000587.4(C7):c.1455G>A (p.Ala485=) rs752869761 0.00006
NM_000587.4(C7):c.2082G>A (p.Pro694=) rs367904690 0.00006
NM_000587.4(C7):c.2165+9C>T rs757884402 0.00006
NM_000587.4(C7):c.2463C>T (p.Gly821=) rs372988180 0.00006
NM_000587.4(C7):c.390C>T (p.Ile130=) rs376056883 0.00006
NM_000587.4(C7):c.391G>A (p.Asp131Asn) rs755439553 0.00006
NM_000587.4(C7):c.567+8C>T rs377158514 0.00005
NM_000587.4(C7):c.6+16C>T rs758008310 0.00005
NM_000587.4(C7):c.1074C>T (p.Asn358=) rs147954006 0.00004
NM_000587.4(C7):c.1986C>T (p.Gly662=) rs201234241 0.00004
NM_000587.4(C7):c.2157C>T (p.Tyr719=) rs563401809 0.00004
NM_000587.4(C7):c.2520G>A (p.Ala840=) rs767611028 0.00004
NM_000587.4(C7):c.924G>A (p.Ser308=) rs772715061 0.00004
NM_000587.4(C7):c.1272A>G (p.Leu424=) rs1281349811 0.00003
NM_000587.4(C7):c.1545G>A (p.Gly515=) rs762069532 0.00002
NM_000587.4(C7):c.2351-20T>G rs566503738 0.00002
NM_000587.4(C7):c.2508G>A (p.Arg836=) rs745538783 0.00002
NM_000587.4(C7):c.280+16T>C rs752686829 0.00002
NM_000587.4(C7):c.906T>C (p.His302=) rs748370542 0.00002
NM_000587.4(C7):c.1093+19G>A rs565547027 0.00001
NM_000587.4(C7):c.1315C>T (p.Leu439=) rs751264145 0.00001
NM_000587.4(C7):c.1374G>A (p.Arg458=) rs571005172 0.00001
NM_000587.4(C7):c.1490-9A>T rs750979139 0.00001
NM_000587.4(C7):c.1632A>G (p.Gln544=) rs755424195 0.00001
NM_000587.4(C7):c.1809C>T (p.Tyr603=) rs753543026 0.00001
NM_000587.4(C7):c.1882+13A>C rs748711333 0.00001
NM_000587.4(C7):c.1882+14G>A rs748619539 0.00001
NM_000587.4(C7):c.2212C>T (p.Leu738=) rs777127370 0.00001
NM_000587.4(C7):c.2394G>A (p.Glu798=) rs781453586 0.00001
NM_000587.4(C7):c.2415T>C (p.Cys805=) rs1427186883 0.00001
NM_000587.4(C7):c.270G>A (p.Arg90=) rs377496290 0.00001
NM_000587.4(C7):c.378T>C (p.Pro126=) rs1210695392 0.00001
NM_000587.4(C7):c.387T>C (p.Asp129=) rs983221833 0.00001
NM_000587.4(C7):c.428+17C>T rs375891936 0.00001
NM_000587.4(C7):c.428+9C>T rs373620216 0.00001
NM_000587.4(C7):c.429-10C>T rs937677530 0.00001
NM_000587.4(C7):c.444T>C (p.Thr148=) rs1358008731 0.00001
NM_000587.4(C7):c.750G>A (p.Leu250=) rs758676241 0.00001
NM_000587.4(C7):c.840T>G (p.Leu280=) rs766169920 0.00001
NM_000587.4(C7):c.1023T>C (p.Gly341=)
NM_000587.4(C7):c.102C>T (p.Ala34=)
NM_000587.4(C7):c.1035C>A (p.Val345=)
NM_000587.4(C7):c.1035C>T (p.Val345=) rs377251576
NM_000587.4(C7):c.1094-11C>G
NM_000587.4(C7):c.1094-12T>G
NM_000587.4(C7):c.1094-13T>G
NM_000587.4(C7):c.1094-17_1094-5del
NM_000587.4(C7):c.1098C>A (p.Thr366=)
NM_000587.4(C7):c.1114C>A (p.Arg372=)
NM_000587.4(C7):c.1125G>A (p.Pro375=) rs1269582660
NM_000587.4(C7):c.1140A>T (p.Gly380=)
NM_000587.4(C7):c.1146A>T (p.Ala382=)
NM_000587.4(C7):c.1177C>T (p.Leu393=)
NM_000587.4(C7):c.1248C>A (p.Val416=)
NM_000587.4(C7):c.1260+19A>G
NM_000587.4(C7):c.1261-6C>G
NM_000587.4(C7):c.1261-8_1261-3del rs1174305227
NM_000587.4(C7):c.1266A>G (p.Thr422=)
NM_000587.4(C7):c.126T>C (p.Cys42=)
NM_000587.4(C7):c.1296T>C (p.Pro432=)
NM_000587.4(C7):c.129C>T (p.Thr43=)
NM_000587.4(C7):c.1302C>G (p.Ala434=)
NM_000587.4(C7):c.1347G>T (p.Leu449=)
NM_000587.4(C7):c.1356T>C (p.Phe452=) rs1740338118
NM_000587.4(C7):c.1374G>T (p.Arg458=)
NM_000587.4(C7):c.138+12C>A
NM_000587.4(C7):c.1386T>C (p.Asn462=)
NM_000587.4(C7):c.1404T>C (p.Val468=)
NM_000587.4(C7):c.1431C>T (p.Cys477=)
NM_000587.4(C7):c.1437G>A (p.Pro479=)
NM_000587.4(C7):c.1437G>T (p.Pro479=)
NM_000587.4(C7):c.1452G>A (p.Ala484=) rs373200862
NM_000587.4(C7):c.1452G>T (p.Ala484=) rs373200862
NM_000587.4(C7):c.1485A>G (p.Gln495=)
NM_000587.4(C7):c.1489+7G>A rs374084991
NM_000587.4(C7):c.1490-16C>A
NM_000587.4(C7):c.1490-16C>G
NM_000587.4(C7):c.1512T>C (p.Ser504=)
NM_000587.4(C7):c.1557A>G (p.Arg519=)
NM_000587.4(C7):c.1575C>T (p.Asn525=)
NM_000587.4(C7):c.1578A>G (p.Pro526=)
NM_000587.4(C7):c.1605C>T (p.Cys535=)
NM_000587.4(C7):c.162G>A (p.Val54=)
NM_000587.4(C7):c.1661+11C>T
NM_000587.4(C7):c.1661+12C>A
NM_000587.4(C7):c.1661+14G>A
NM_000587.4(C7):c.1662-18C>T rs755673846
NM_000587.4(C7):c.1662-7C>A
NM_000587.4(C7):c.1719A>T (p.Ser573=)
NM_000587.4(C7):c.171G>A (p.Gln57=)
NM_000587.4(C7):c.1734A>G (p.Lys578=) rs2111675794
NM_000587.4(C7):c.1737T>C (p.Asp579=)
NM_000587.4(C7):c.1749+17A>G rs1261775685
NM_000587.4(C7):c.1749+17A>T
NM_000587.4(C7):c.1749+8A>G
NM_000587.4(C7):c.1750-7T>C
NM_000587.4(C7):c.1758T>C (p.Gly586=)
NM_000587.4(C7):c.1761A>G (p.Thr587=)
NM_000587.4(C7):c.1773G>T (p.Val591=)
NM_000587.4(C7):c.1785A>G (p.Val595=) rs2111683483
NM_000587.4(C7):c.1824C>T (p.Asn608=)
NM_000587.4(C7):c.1882+14G>C
NM_000587.4(C7):c.1882+14G>T
NM_000587.4(C7):c.1882+19A>G
NM_000587.4(C7):c.1882+20T>C
NM_000587.4(C7):c.1882+9C>T
NM_000587.4(C7):c.1883-18G>T
NM_000587.4(C7):c.1883-4T>G
NM_000587.4(C7):c.1906C>T (p.Leu636=)
NM_000587.4(C7):c.1932C>T (p.Pro644=)
NM_000587.4(C7):c.1980A>T (p.Ser660=)
NM_000587.4(C7):c.1993T>C (p.Leu665=) rs1740722505
NM_000587.4(C7):c.2013T>C (p.Phe671=)
NM_000587.4(C7):c.2055T>C (p.Asn685=)
NM_000587.4(C7):c.2058C>T (p.Ala686=)
NM_000587.4(C7):c.2074+16G>A
NM_000587.4(C7):c.2075-10C>T
NM_000587.4(C7):c.2075-11T>A
NM_000587.4(C7):c.2075-16C>G
NM_000587.4(C7):c.2075-18T>C
NM_000587.4(C7):c.2075-7T>G
NM_000587.4(C7):c.2122C>T (p.Leu708=)
NM_000587.4(C7):c.2165+10G>A rs777461819
NM_000587.4(C7):c.2165+11C>T
NM_000587.4(C7):c.2165+12C>T
NM_000587.4(C7):c.2165+19C>G
NM_000587.4(C7):c.2166-14A>C
NM_000587.4(C7):c.2166-20T>A
NM_000587.4(C7):c.216C>G (p.Ser72=)
NM_000587.4(C7):c.2187T>C (p.Ala729=) rs749167423
NM_000587.4(C7):c.2214G>C (p.Leu738=)
NM_000587.4(C7):c.225T>G (p.Pro75=)
NM_000587.4(C7):c.2292T>C (p.Thr764=)
NM_000587.4(C7):c.2292T>G (p.Thr764=)
NM_000587.4(C7):c.2316T>C (p.Ala772=)
NM_000587.4(C7):c.2328C>T (p.Cys776=)
NM_000587.4(C7):c.2334G>C (p.Leu778=) rs1006111779
NM_000587.4(C7):c.2350+13del
NM_000587.4(C7):c.2351-10A>G
NM_000587.4(C7):c.2364A>G (p.Lys788=)
NM_000587.4(C7):c.2391C>T (p.Cys797=)
NM_000587.4(C7):c.2403G>A (p.Gly801=)
NM_000587.4(C7):c.2406T>C (p.Phe802=)
NM_000587.4(C7):c.240A>G (p.Pro80=)
NM_000587.4(C7):c.2442G>C (p.Thr814=) rs374829582
NM_000587.4(C7):c.2457G>A (p.Glu819=)
NM_000587.4(C7):c.2460G>A (p.Ala820=) rs369115220
NM_000587.4(C7):c.2460G>T (p.Ala820=)
NM_000587.4(C7):c.2502C>T (p.Ser834=)
NM_000587.4(C7):c.2511T>C (p.Pro837=)
NM_000587.4(C7):c.280+7T>C
NM_000587.4(C7):c.281-19G>C
NM_000587.4(C7):c.281-8G>T
NM_000587.4(C7):c.288C>T (p.Cys96=)
NM_000587.4(C7):c.291C>T (p.Ile97=)
NM_000587.4(C7):c.315G>C (p.Gly105=)
NM_000587.4(C7):c.363C>T (p.Asp121=)
NM_000587.4(C7):c.381C>T (p.Ser127=)
NM_000587.4(C7):c.39A>T (p.Ile13=)
NM_000587.4(C7):c.420T>C (p.Thr140=)
NM_000587.4(C7):c.428+17C>G
NM_000587.4(C7):c.428+18C>G rs773453217
NM_000587.4(C7):c.428+20C>A
NM_000587.4(C7):c.428+20C>T rs766543238
NM_000587.4(C7):c.429-14C>A
NM_000587.4(C7):c.429-17C>T
NM_000587.4(C7):c.429-20C>T
NM_000587.4(C7):c.489T>C (p.Gly163=)
NM_000587.4(C7):c.492A>G (p.Gln164=)
NM_000587.4(C7):c.550C>T (p.Leu184=)
NM_000587.4(C7):c.567+12G>A rs762332497
NM_000587.4(C7):c.568-20A>G
NM_000587.4(C7):c.568-4G>T
NM_000587.4(C7):c.568-8C>T
NM_000587.4(C7):c.621T>C (p.Tyr207=)
NM_000587.4(C7):c.63-19C>T
NM_000587.4(C7):c.63-7G>T rs2111579766
NM_000587.4(C7):c.633G>A (p.Thr211=)
NM_000587.4(C7):c.636G>A (p.Ser212=)
NM_000587.4(C7):c.648A>G (p.Thr216=)
NM_000587.4(C7):c.651A>G (p.Ser217=)
NM_000587.4(C7):c.651A>T (p.Ser217=)
NM_000587.4(C7):c.696A>G (p.Ser232=) rs761256956
NM_000587.4(C7):c.7-4C>T
NM_000587.4(C7):c.720T>C (p.Asn240=) rs767360474
NM_000587.4(C7):c.738+15T>C
NM_000587.4(C7):c.738+16C>G rs2111623688
NM_000587.4(C7):c.739-18T>C
NM_000587.4(C7):c.739-19C>T
NM_000587.4(C7):c.739-20A>G
NM_000587.4(C7):c.739-4A>G
NM_000587.4(C7):c.753G>T (p.Leu251=) rs777896262
NM_000587.4(C7):c.768T>C (p.Thr256=)
NM_000587.4(C7):c.771T>C (p.Val257=) rs2111630523
NM_000587.4(C7):c.786C>T (p.Phe262=)
NM_000587.4(C7):c.798T>C (p.Asn266=)
NM_000587.4(C7):c.822G>A (p.Glu274=)
NM_000587.4(C7):c.852C>T (p.Pro284=)
NM_000587.4(C7):c.876C>T (p.Tyr292=)
NM_000587.4(C7):c.888C>T (p.Ile296=)
NM_000587.4(C7):c.894G>A (p.Gln298=) rs1740081250
NM_000587.4(C7):c.897C>T (p.Tyr299=)
NM_000587.4(C7):c.948A>G (p.Leu316=)
NM_000587.4(C7):c.972A>G (p.Leu324=)
NM_000587.4(C7):c.982+19C>T
NM_000587.4(C7):c.982+20G>A
NM_000587.4(C7):c.983-18_983-17del rs2111637038
NM_000587.4(C7):c.983-7C>T
NM_000587.4(C7):c.996C>G (p.Val332=) rs193145035
NM_000587.4(C7):c.9G>A (p.Val3=)

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