ClinVar Miner

List of variants studied for mandibulofacial dysostosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
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ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=) rs141331809 0.00377
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001371623.1(TCOF1):c.4346-17T>A rs76350524 0.00195
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_001957.4(EDNRA):c.24A>G (p.Ala8=) rs146092355 0.00096
NM_001957.4(EDNRA):c.549-10T>C rs10305905 0.00048
NM_203290.4(POLR1C):c.116C>T (p.Ala39Val) rs148236144 0.00038
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_002734.5(PRKAR1A):c.238G>T (p.Asp80Tyr) rs762678902 0.00019
NM_203290.4(POLR1C):c.65G>A (p.Arg22His) rs149529196 0.00018
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys) rs200561413 0.00012
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_002734.5(PRKAR1A):c.914G>A (p.Arg305His) rs768253469 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_001957.4(EDNRA):c.354G>A (p.Leu118=) rs201702493 0.00009
NM_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 0.00009
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009 0.00008
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000503.6(EYA1):c.399G>A (p.Pro133=) rs146356299 0.00006
NM_000503.6(EYA1):c.639+17G>C rs199791692 0.00006
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408 0.00006
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00004
NM_000503.6(EYA1):c.419-10A>G rs371502049 0.00004
NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=) rs2292764 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_000503.6(EYA1):c.125-13T>C rs753263675 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) rs754901033 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) rs530921368 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_001104631.2(PDE4D):c.235C>T (p.Pro79Ser) rs765507833 0.00002
NM_002734.5(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434 0.00002
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) rs1015942660 0.00002
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 0.00001
NM_000503.6(EYA1):c.165G>A (p.Thr55=) rs745425275 0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) rs794727845 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_203290.4(POLR1C):c.70-1G>A rs886041661 0.00001
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159 0.00001
NM_000503.6(EYA1):c.1041A>T (p.Arg347Ser)
NM_000503.6(EYA1):c.1043A>T (p.Tyr348Phe)
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1137del (p.Glu380fs)
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1178A>C (p.Asp393Ala)
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly) rs1809290834
NM_000503.6(EYA1):c.1199+19G>A
NM_000503.6(EYA1):c.1277dup (p.Gly427fs)
NM_000503.6(EYA1):c.1279G>A (p.Gly427Ser)
NM_000503.6(EYA1):c.1288T>C (p.Trp430Arg)
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1360+2C>T rs727503045
NM_000503.6(EYA1):c.1361-2A>C
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) rs2128850318
NM_000503.6(EYA1):c.1496T>G (p.Leu499Ter)
NM_000503.6(EYA1):c.1510C>T (p.Gln504Ter)
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1625T>A (p.Ile542Asn)
NM_000503.6(EYA1):c.1645G>A (p.Val549Met)
NM_000503.6(EYA1):c.1684_1686dup (p.Gln562_Gly563insGln)
NM_000503.6(EYA1):c.1698G>T (p.Lys566Asn)
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly) rs775343638
NM_000503.6(EYA1):c.172G>A (p.Asp58Asn)
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.1A>G (p.Met1Val)
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.23G>A (p.Ser8Asn)
NM_000503.6(EYA1):c.273-3T>C rs2129031680
NM_000503.6(EYA1):c.284C>T (p.Pro95Leu)
NM_000503.6(EYA1):c.302C>T (p.Pro101Leu)
NM_000503.6(EYA1):c.37C>G (p.Leu13Val)
NM_000503.6(EYA1):c.416A>G (p.Tyr139Cys)
NM_000503.6(EYA1):c.418+3G>A
NM_000503.6(EYA1):c.494G>A (p.Ser165Asn)
NM_000503.6(EYA1):c.524C>A (p.Pro175His)
NM_000503.6(EYA1):c.533C>T (p.Ala178Val)
NM_000503.6(EYA1):c.557-13C>T
NM_000503.6(EYA1):c.56C>A (p.Ser19Tyr)
NM_000503.6(EYA1):c.589A>G (p.Thr197Ala)
NM_000503.6(EYA1):c.620G>T (p.Gly207Val)
NM_000503.6(EYA1):c.626A>G (p.Asn209Ser)
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)
NM_000503.6(EYA1):c.679G>C (p.Ala227Pro)
NM_000503.6(EYA1):c.746C>T (p.Thr249Ile)
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)
NM_000503.6(EYA1):c.771G>A (p.Gln257=)
NM_000503.6(EYA1):c.809T>C (p.Val270Ala)
NM_000503.6(EYA1):c.815A>G (p.Asp272Gly)
NM_000503.6(EYA1):c.878A>T (p.Asp293Val)
NM_000503.6(EYA1):c.881G>A (p.Arg294Gln)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.916C>T (p.Arg306Trp)
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.943C>T (p.Pro315Ser)
NM_000503.6(EYA1):c.967-16G>A
NM_000503.6(EYA1):c.970G>C (p.Val324Leu)
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)
NM_000503.6(EYA1):c.9G>T (p.Met3Ile)
NM_001104631.2(PDE4D):c.2098A>G (p.Thr700Ala)
NM_001104631.2(PDE4D):c.2243C>T (p.Thr748Met)
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_001276290.1(PRKAR1A):c.1012T>C (p.Ter338Gln)
NM_001371623.1(TCOF1):c.2190_2193dup (p.Lys732fs)
NM_001957.4(EDNRA):c.1034+19G>A rs10305924
NM_001957.4(EDNRA):c.748-19_748-18insCT rs71594223
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.1057C>A (p.Pro353Thr) rs2085939977
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.78C>G (p.Asn26Lys)
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002734.5(PRKAR1A):c.891+1G>A
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter) rs1793021342
NM_203290.4(POLR1C):c.243_246del (p.Ala82fs)
NM_203290.4(POLR1C):c.247G>T (p.Glu83Ter)
NM_203290.4(POLR1C):c.250-8_253delinsA
NM_203290.4(POLR1C):c.383-2A>G
NM_203290.4(POLR1C):c.420dup (p.Arg141fs)
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.53del (p.Glu18fs)
NM_203290.4(POLR1C):c.595A>T (p.Ile199Phe)
NM_203290.4(POLR1C):c.696_712del (p.Ser232fs)
NM_203290.4(POLR1C):c.699C>A (p.Tyr233Ter)
NM_203290.4(POLR1C):c.70-2A>G
NM_203290.4(POLR1C):c.763_776del (p.Arg255fs)
NM_203290.4(POLR1C):c.793C>T (p.Gln265Ter) rs2127691140
NM_203290.4(POLR1C):c.796del (p.Glu266fs)
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) rs875989826
NM_203290.4(POLR1C):c.901C>T (p.Arg301Trp)
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) rs767639108
NM_203290.4(POLR1C):c.922+1G>C
NM_203290.4(POLR1C):c.943del (p.Val315fs)

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