ClinVar Miner

List of variants reported as uncertain significance for MEGF8-related Carpenter syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083 0.00063
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442 0.00055
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met) rs141221243 0.00031
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477 0.00029
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) rs143215498 0.00029
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) rs368693886 0.00025
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met) rs372955721 0.00024
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=) rs149716961 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln) rs773886995 0.00016
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594 0.00016
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363 0.00016
NM_001271938.2(MEGF8):c.351+4A>G rs753271808 0.00015
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) rs373631162 0.00014
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) rs139601509 0.00014
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) rs200910137 0.00011
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His) rs759275421 0.00011
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met) rs760894129 0.00011
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=) rs764014679 0.00010
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp) rs200195292 0.00009
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser) rs370106282 0.00007
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys) rs143643113 0.00007
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547 0.00006
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln) rs146355445 0.00006
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys) rs762398666 0.00006
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950 0.00006
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp) rs772299336 0.00006
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr) rs757924699 0.00006
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131 0.00006
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr) rs373293709 0.00006
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp) rs371283114 0.00005
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val) rs746330794 0.00005
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys) rs142361779 0.00005
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp) rs139859934 0.00005
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu) rs769598183 0.00005
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) rs766621187 0.00005
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234 0.00004
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His) rs370984978 0.00004
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met) rs370225382 0.00004
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys) rs753671779 0.00004
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg) rs770472361 0.00004
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074 0.00004
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met) rs376248434 0.00004
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg) rs754432292 0.00003
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu) rs768036287 0.00003
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu) rs757227265 0.00003
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp) rs529688057 0.00003
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His) rs771233244 0.00003
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507 0.00003
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688 0.00003
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe) rs1064796651 0.00002
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp) rs769862975 0.00002
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu) rs993849381 0.00002
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln) rs1460568797 0.00002
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys) rs760894078 0.00002
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596 0.00002
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val) rs768713408 0.00002
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys) rs777955709 0.00002
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys) rs1205847294 0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) rs758007485 0.00002
NM_001271938.2(MEGF8):c.739+3G>A rs772336647 0.00002
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335 0.00002
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln) rs764185083 0.00002
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp) rs768902189 0.00002
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys) rs747026334 0.00001
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys) rs761382753 0.00001
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln) rs368683081 0.00001
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln) rs775071124 0.00001
NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile) rs1029623509 0.00001
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln) rs758585947 0.00001
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp) rs1374279391 0.00001
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys) rs763111888 0.00001
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser) rs977777127 0.00001
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp) rs892173452 0.00001
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys) rs377750684 0.00001
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252 0.00001
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His) rs749669318 0.00001
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln) rs372798483 0.00001
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys) rs774288940 0.00001
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly) rs764246520 0.00001
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys) rs771890594 0.00001
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn) rs747286989 0.00001
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu) rs766493787 0.00001
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys) rs1438199181 0.00001
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp) rs769584545 0.00001
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val) rs773102301 0.00001
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu) rs749183655 0.00001
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile) rs375853163 0.00001
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=) rs1461151357 0.00001
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser) rs779537526 0.00001
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val) rs975858414 0.00001
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser) rs753588973 0.00001
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys) rs1298003744 0.00001
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly) rs535520607 0.00001
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val) rs764773192
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) rs2039264644
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser) rs2147472784
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu) rs2039350288
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) rs777017134
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) rs2039399285
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met) rs770399527
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
NM_001271938.2(MEGF8):c.4144+4C>T
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His) rs541874206
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg) rs1285619780
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly) rs1050352479
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) rs770879154
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) rs761809949
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe) rs1201933643
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr) rs2147493826
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr) rs1409781298
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His) rs201881006
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=) rs536661123
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr) rs2147497843
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His) rs1399203080
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly) rs2147506322
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys) rs760913754
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
NM_001271938.2(MEGF8):c.6641+14C>T
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu) rs142506261
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
NM_001271938.2(MEGF8):c.7269+19G>A
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) rs2039754626
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) rs769273382
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe) rs773064133
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu) rs2147519774
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met) rs140517402
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu) rs377001753
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser) rs548176972
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg) rs2147521006
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)

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