ClinVar Miner

List of variants in gene C7 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000587.4(C7):c.1912G>A (p.Asp638Asn) rs200375051 0.00080
NM_000587.4(C7):c.1852C>T (p.Arg618Trp) rs202140226 0.00073
NM_000587.4(C7):c.943G>A (p.Val315Ile) rs374639013 0.00051
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_000587.4(C7):c.2480G>A (p.Gly827Glu) rs377156524 0.00022
NM_000587.4(C7):c.229A>G (p.Arg77Gly) rs41271061 0.00021
NM_000587.4(C7):c.281-3C>T rs374734263 0.00021
NM_000587.4(C7):c.953A>G (p.Tyr318Cys) rs769952777 0.00020
NM_000587.4(C7):c.659G>A (p.Arg220Gln) rs369349760 0.00017
NM_000587.4(C7):c.1636G>A (p.Glu546Lys) rs192679722 0.00016
NM_000587.4(C7):c.605A>G (p.Asn202Ser) rs199587630 0.00016
NM_000587.4(C7):c.590A>G (p.Asn197Ser) rs374503886 0.00015
NM_000587.4(C7):c.700A>G (p.Ser234Gly) rs200617744 0.00015
NM_000587.4(C7):c.1319A>T (p.Tyr440Phe) rs781040180 0.00014
NM_000587.4(C7):c.1451C>T (p.Ala484Val) rs369097905 0.00014
NM_000587.4(C7):c.140C>T (p.Thr47Ile) rs41271063 0.00011
NM_000587.4(C7):c.1562G>A (p.Arg521His) rs144118466 0.00011
NM_000587.4(C7):c.139-3T>C rs535706268 0.00010
NM_000587.4(C7):c.1075G>A (p.Ala359Thr) rs371469026 0.00009
NM_000587.4(C7):c.1454C>T (p.Ala485Val) rs200622924 0.00009
NM_000587.4(C7):c.2402G>A (p.Gly801Glu) rs199592002 0.00009
NM_000587.4(C7):c.2375G>A (p.Arg792Gln) rs372359270 0.00008
NM_000587.4(C7):c.1373G>A (p.Arg458Gln) rs369303619 0.00007
NM_000587.4(C7):c.149G>A (p.Arg50Gln) rs369128445 0.00007
NM_000587.4(C7):c.920G>T (p.Gly307Val) rs370684980 0.00007
NM_000587.4(C7):c.1372C>T (p.Arg458Trp) rs201260295 0.00006
NM_000587.4(C7):c.1895T>C (p.Val632Ala) rs534452892 0.00006
NM_000587.4(C7):c.2521G>C (p.Glu841Gln) rs750539263 0.00006
NM_000587.4(C7):c.158C>T (p.Ala53Val) rs572296590 0.00005
NM_000587.4(C7):c.434A>G (p.Asn145Ser) rs776782605 0.00005
NM_000587.4(C7):c.1124C>T (p.Pro375Leu) rs369663567 0.00004
NM_000587.4(C7):c.1205G>A (p.Arg402Gln) rs753530114 0.00004
NM_000587.4(C7):c.1244A>G (p.Gln415Arg) rs370190257 0.00004
NM_000587.4(C7):c.1407G>C (p.Glu469Asp) rs531427544 0.00004
NM_000587.4(C7):c.175G>A (p.Gly59Arg) rs369091418 0.00004
NM_000587.4(C7):c.1985G>A (p.Gly662Asp) rs182329562 0.00004
NM_000587.4(C7):c.658C>T (p.Arg220Trp) rs372012422 0.00004
NM_000587.4(C7):c.997G>A (p.Glu333Lys) rs368388575 0.00004
NM_000587.4(C7):c.1411A>T (p.Thr471Ser) rs371379073 0.00003
NM_000587.4(C7):c.719A>G (p.Asn240Ser) rs761491387 0.00003
NM_000587.4(C7):c.1072A>G (p.Asn358Asp) rs142435483 0.00002
NM_000587.4(C7):c.1131C>G (p.Ile377Met) rs895178950 0.00002
NM_000587.4(C7):c.1136G>C (p.Gly379Ala) rs773461229 0.00002
NM_000587.4(C7):c.1183A>G (p.Asn395Asp) rs752038622 0.00002
NM_000587.4(C7):c.1485A>T (p.Gln495His) rs780464412 0.00002
NM_000587.4(C7):c.1555A>G (p.Arg519Gly) rs1381374646 0.00002
NM_000587.4(C7):c.1853G>A (p.Arg618Gln) rs757348574 0.00002
NM_000587.4(C7):c.2384C>T (p.Ser795Leu) rs201818141 0.00002
NM_000587.4(C7):c.2441C>T (p.Thr814Met) rs769499557 0.00002
NM_000587.4(C7):c.664C>T (p.Arg222Cys) rs755950201 0.00002
NM_000587.4(C7):c.982+3A>G rs180932456 0.00002
NM_000587.4(C7):c.1009T>C (p.Cys337Arg) rs1046331172 0.00001
NM_000587.4(C7):c.1201A>T (p.Arg401Trp) rs755704398 0.00001
NM_000587.4(C7):c.121G>A (p.Gly41Ser) rs937654879 0.00001
NM_000587.4(C7):c.1261-3T>C rs769010259 0.00001
NM_000587.4(C7):c.138+3A>G rs1363955530 0.00001
NM_000587.4(C7):c.1442C>G (p.Thr481Arg) rs1333144986 0.00001
NM_000587.4(C7):c.1529G>A (p.Ser510Asn) rs199971709 0.00001
NM_000587.4(C7):c.1816A>G (p.Ile606Val) rs571577993 0.00001
NM_000587.4(C7):c.1914T>A (p.Asp638Glu) rs747515166 0.00001
NM_000587.4(C7):c.1966A>T (p.Thr656Ser) rs1412916341 0.00001
NM_000587.4(C7):c.2048T>C (p.Met683Thr) rs1402491201 0.00001
NM_000587.4(C7):c.2099C>T (p.Pro700Leu) rs745729152 0.00001
NM_000587.4(C7):c.2266A>G (p.Thr756Ala) rs1021993808 0.00001
NM_000587.4(C7):c.2299G>A (p.Ala767Thr) rs1261586501 0.00001
NM_000587.4(C7):c.352A>G (p.Arg118Gly) rs762776940 0.00001
NM_000587.4(C7):c.632C>T (p.Thr211Met) rs749541097 0.00001
NM_000587.4(C7):c.635C>T (p.Ser212Leu) rs774733206 0.00001
NM_000587.4(C7):c.68C>T (p.Ser23Phe) rs1330433248 0.00001
NM_000587.4(C7):c.733G>A (p.Gly245Arg) rs151097629 0.00001
NM_000587.4(C7):c.776T>C (p.Val259Ala) rs373185392 0.00001
NM_000587.4(C7):c.878G>A (p.Arg293Gln) rs764221802 0.00001
NM_000587.4(C7):c.898G>A (p.Gly300Arg) rs780751557 0.00001
NM_000587.4(C7):c.941G>A (p.Arg314Lys) rs1338856752 0.00001
NC_000005.9:g.(?_40909713)_(40909738_?)dup
NC_000005.9:g.(?_40928662)_(40937812_?)del
NC_000005.9:g.(?_40949986)_(40950136_?)del
NM_000587.4(C7):c.1028A>G (p.His343Arg) rs768503454
NM_000587.4(C7):c.1036G>A (p.Val346Ile)
NM_000587.4(C7):c.1037T>C (p.Val346Ala)
NM_000587.4(C7):c.1064A>G (p.Glu355Gly)
NM_000587.4(C7):c.1093+5A>G rs2111637665
NM_000587.4(C7):c.109T>C (p.Ser37Pro) rs1216838400
NM_000587.4(C7):c.1129A>T (p.Ile377Phe)
NM_000587.4(C7):c.1130T>C (p.Ile377Thr)
NM_000587.4(C7):c.1136G>T (p.Gly379Val) rs773461229
NM_000587.4(C7):c.113A>C (p.Glu38Ala)
NM_000587.4(C7):c.1141G>T (p.Gly381Cys)
NM_000587.4(C7):c.119A>G (p.Asn40Ser)
NM_000587.4(C7):c.120T>A (p.Asn40Lys)
NM_000587.4(C7):c.1219G>T (p.Ala407Ser) rs1013282108
NM_000587.4(C7):c.1262T>C (p.Leu421Pro) rs1156578432
NM_000587.4(C7):c.1270T>G (p.Leu424Val) rs1411622364
NM_000587.4(C7):c.1274A>G (p.Tyr425Cys)
NM_000587.4(C7):c.1349A>G (p.Asp450Gly) rs2111663539
NM_000587.4(C7):c.1359C>A (p.Asp453Glu)
NM_000587.4(C7):c.1425C>G (p.Cys475Trp)
NM_000587.4(C7):c.1436C>T (p.Pro479Leu)
NM_000587.4(C7):c.143G>A (p.Arg48His)
NM_000587.4(C7):c.1445T>A (p.Phe482Tyr) rs773008283
NM_000587.4(C7):c.1450G>A (p.Ala484Thr) rs2111664031
NM_000587.4(C7):c.1474G>A (p.Val492Ile)
NM_000587.4(C7):c.1482T>G (p.Asn494Lys)
NM_000587.4(C7):c.1489G>A (p.Gly497Arg)
NM_000587.4(C7):c.1489G>C (p.Gly497Arg) rs989098811
NM_000587.4(C7):c.1490-3T>C rs1297205740
NM_000587.4(C7):c.1490G>T (p.Gly497Val)
NM_000587.4(C7):c.1493G>C (p.Gly498Ala)
NM_000587.4(C7):c.1520C>T (p.Ser507Phe) rs2111667974
NM_000587.4(C7):c.1528A>T (p.Ser510Cys) rs2111668007
NM_000587.4(C7):c.1538T>G (p.Val513Gly)
NM_000587.4(C7):c.154G>A (p.Val52Ile)
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.1561C>G (p.Arg521Gly) rs121964920
NM_000587.4(C7):c.1576C>A (p.Pro526Thr)
NM_000587.4(C7):c.1588G>C (p.Gly530Arg)
NM_000587.4(C7):c.1589G>A (p.Gly530Glu)
NM_000587.4(C7):c.1591G>T (p.Gly531Cys)
NM_000587.4(C7):c.1600T>C (p.Ser534Pro)
NM_000587.4(C7):c.1606G>A (p.Val536Ile) rs200879856
NM_000587.4(C7):c.1621G>A (p.Glu541Lys) rs754376639
NM_000587.4(C7):c.1633T>C (p.Cys545Arg)
NM_000587.4(C7):c.1634G>A (p.Cys545Tyr)
NM_000587.4(C7):c.1635C>G (p.Cys545Trp)
NM_000587.4(C7):c.1678T>G (p.Cys560Gly)
NM_000587.4(C7):c.167G>C (p.Gly56Ala)
NM_000587.4(C7):c.1712G>A (p.Cys571Tyr)
NM_000587.4(C7):c.1749+15A>G
NM_000587.4(C7):c.176G>A (p.Gly59Glu) rs2111590759
NM_000587.4(C7):c.1782T>A (p.Asn594Lys)
NM_000587.4(C7):c.1825C>A (p.Pro609Thr)
NM_000587.4(C7):c.1831G>C (p.Ala611Pro)
NM_000587.4(C7):c.1841_1843del (p.Gly614del) rs1404295833
NM_000587.4(C7):c.1842AGA[1] (p.Glu615del)
NM_000587.4(C7):c.184C>G (p.Pro62Ala) rs2111590828
NM_000587.4(C7):c.1897C>G (p.Leu633Val)
NM_000587.4(C7):c.1901C>T (p.Pro634Leu)
NM_000587.4(C7):c.1906C>G (p.Leu636Val)
NM_000587.4(C7):c.1909_1911dup (p.Met637dup) rs761491305
NM_000587.4(C7):c.1910T>G (p.Met637Arg)
NM_000587.4(C7):c.1918A>C (p.Ile640Leu)
NM_000587.4(C7):c.191T>C (p.Val64Ala)
NM_000587.4(C7):c.1920A>G (p.Ile640Met)
NM_000587.4(C7):c.1945T>C (p.Tyr649His) rs2111709825
NM_000587.4(C7):c.1949C>G (p.Thr650Arg) rs1740721214
NM_000587.4(C7):c.1969G>A (p.Val657Ile)
NM_000587.4(C7):c.2000G>A (p.Gly667Asp)
NM_000587.4(C7):c.2014C>G (p.Leu672Val)
NM_000587.4(C7):c.2026A>G (p.Ser676Gly) rs1579875501
NM_000587.4(C7):c.2030T>C (p.Leu677Pro) rs374483929
NM_000587.4(C7):c.2036G>T (p.Trp679Leu)
NM_000587.4(C7):c.2042C>G (p.Pro681Arg)
NM_000587.4(C7):c.2044G>C (p.Glu682Gln)
NM_000587.4(C7):c.2047A>T (p.Met683Leu) rs2111710195
NM_000587.4(C7):c.2059C>G (p.Arg687Gly) rs117487879
NM_000587.4(C7):c.2059C>T (p.Arg687Cys)
NM_000587.4(C7):c.2060G>A (p.Arg687His) rs113187203
NM_000587.4(C7):c.2073A>T (p.Lys691Asn) rs186028395
NM_000587.4(C7):c.2092G>C (p.Ala698Pro)
NM_000587.4(C7):c.2098C>T (p.Pro700Ser)
NM_000587.4(C7):c.2104T>C (p.Cys702Arg) rs769933593
NM_000587.4(C7):c.2105G>A (p.Cys702Tyr) rs201976045
NM_000587.4(C7):c.2110C>T (p.Arg704Cys)
NM_000587.4(C7):c.2111G>A (p.Arg704His)
NM_000587.4(C7):c.2125C>A (p.Gln709Lys)
NM_000587.4(C7):c.2155T>C (p.Tyr719His)
NM_000587.4(C7):c.2162G>A (p.Cys721Tyr)
NM_000587.4(C7):c.2166A>T (p.Gly722=)
NM_000587.4(C7):c.2174T>C (p.Leu725Ser) rs2111731631
NM_000587.4(C7):c.2182T>C (p.Cys728Arg)
NM_000587.4(C7):c.2210T>C (p.Ile737Thr)
NM_000587.4(C7):c.2236C>T (p.His746Tyr) rs1187217591
NM_000587.4(C7):c.2237A>G (p.His746Arg)
NM_000587.4(C7):c.2241_2242delinsGT (p.Leu748Phe) rs2111731916
NM_000587.4(C7):c.2273C>T (p.Thr758Ile)
NM_000587.4(C7):c.2290A>G (p.Thr764Ala)
NM_000587.4(C7):c.2299G>T (p.Ala767Ser)
NM_000587.4(C7):c.2309A>C (p.Glu770Ala) rs370729134
NM_000587.4(C7):c.2309A>G (p.Glu770Gly) rs370729134
NM_000587.4(C7):c.2357G>A (p.Ser786Asn)
NM_000587.4(C7):c.2377G>C (p.Glu793Gln)
NM_000587.4(C7):c.2392G>A (p.Glu798Lys) rs781435324
NM_000587.4(C7):c.2399A>G (p.Glu800Gly)
NM_000587.4(C7):c.2417T>C (p.Val806Ala)
NM_000587.4(C7):c.2422G>A (p.Val808Met)
NM_000587.4(C7):c.2445G>A (p.Met815Ile)
NM_000587.4(C7):c.2483A>G (p.Gln828Arg)
NM_000587.4(C7):c.2486G>A (p.Ser829Asn)
NM_000587.4(C7):c.2488A>C (p.Ile830Leu) rs2111737050
NM_000587.4(C7):c.2515G>A (p.Ala839Thr)
NM_000587.4(C7):c.2519C>T (p.Ala840Val)
NM_000587.4(C7):c.2529G>C (p.Gln843His) rs760648926
NM_000587.4(C7):c.262C>T (p.Arg88Cys) rs192439696
NM_000587.4(C7):c.289A>G (p.Ile97Val)
NM_000587.4(C7):c.303G>C (p.Leu101Phe)
NM_000587.4(C7):c.375A>C (p.Arg125Ser)
NM_000587.4(C7):c.376C>A (p.Pro126Thr) rs368083143
NM_000587.4(C7):c.376C>T (p.Pro126Ser)
NM_000587.4(C7):c.397CCT[2] (p.Pro135del)
NM_000587.4(C7):c.39A>G (p.Ile13Met)
NM_000587.4(C7):c.445G>C (p.Gly149Arg)
NM_000587.4(C7):c.536T>C (p.Leu179Pro) rs2111600709
NM_000587.4(C7):c.540T>G (p.Ser180Arg) rs1739845529
NM_000587.4(C7):c.574A>T (p.Ile192Leu)
NM_000587.4(C7):c.581A>G (p.Asn194Ser)
NM_000587.4(C7):c.591T>A (p.Asn197Lys)
NM_000587.4(C7):c.597A>T (p.Glu199Asp)
NM_000587.4(C7):c.6+5G>C
NM_000587.4(C7):c.642A>T (p.Glu214Asp)
NM_000587.4(C7):c.677G>T (p.Arg226Ile)
NM_000587.4(C7):c.690TTC[1] (p.Ser232del)
NM_000587.4(C7):c.692C>A (p.Ser231Tyr)
NM_000587.4(C7):c.697C>T (p.Arg233Cys)
NM_000587.4(C7):c.698G>A (p.Arg233His)
NM_000587.4(C7):c.725T>C (p.Ile242Thr)
NM_000587.4(C7):c.728A>G (p.His243Arg)
NM_000587.4(C7):c.731A>T (p.Lys244Ile)
NM_000587.4(C7):c.766A>C (p.Thr256Pro) rs2111630495
NM_000587.4(C7):c.770T>C (p.Val257Ala)
NM_000587.4(C7):c.787A>G (p.Ile263Val)
NM_000587.4(C7):c.796A>T (p.Asn266Tyr) rs903968294
NM_000587.4(C7):c.908A>G (p.Tyr303Cys)
NM_000587.4(C7):c.923C>G (p.Ser308Trp)
NM_000587.4(C7):c.98A>G (p.Tyr33Cys) rs370335312

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