ClinVar Miner

List of variants in gene MCPH1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) rs35614690 0.00169
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) rs138218829 0.00089
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_024596.5(MCPH1):c.*285G>A rs182479249 0.00064
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) rs148526209 0.00054
NM_024596.5(MCPH1):c.928G>A (p.Val310Ile) rs199865930 0.00051
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.1864G>T (p.Asp622Tyr) rs201318603 0.00041
NM_024596.5(MCPH1):c.1894A>G (p.Lys632Glu) rs377464331 0.00037
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) rs200820759 0.00027
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00026
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) rs35402812 0.00022
NM_024596.5(MCPH1):c.1759A>G (p.Ile587Val) rs372378731 0.00022
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024596.5(MCPH1):c.1825+14C>G rs2583 0.00019
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val) rs202101904 0.00016
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) rs34009706 0.00016
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn) rs376082728 0.00013
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.1202C>T (p.Ala401Val) rs377725772 0.00011
NM_024596.5(MCPH1):c.2353C>T (p.Arg785Trp) rs759811955 0.00011
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1118G>C (p.Arg373Thr) rs373762532 0.00010
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1459A>G (p.Thr487Ala) rs775878359 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile) rs751832733 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) rs200814676 0.00009
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024596.5(MCPH1):c.1903G>A (p.Glu635Lys) rs745847798 0.00007
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) rs201848494 0.00007
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024596.5(MCPH1):c.2404G>A (p.Gly802Arg) rs370842740 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.505A>T (p.Asn169Tyr) rs201120541 0.00006
NM_024596.5(MCPH1):c.616A>G (p.Ser206Gly) rs200071210 0.00006
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) rs763114241 0.00006
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 0.00005
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) rs376658910 0.00005
NM_024596.5(MCPH1):c.1502C>T (p.Ser501Phe) rs771862271 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg) rs149813931 0.00005
NM_024596.5(MCPH1):c.*295A>C rs772797157 0.00004
NM_024596.5(MCPH1):c.*388G>C rs948143436 0.00004
NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln) rs779574623 0.00004
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=) rs587783732 0.00004
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala) rs911978407 0.00004
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His) rs536823455 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024596.5(MCPH1):c.*122T>A rs950454282 0.00003
NM_024596.5(MCPH1):c.*86A>G rs886063069 0.00003
NM_024596.5(MCPH1):c.-10G>C rs773915060 0.00003
NM_024596.5(MCPH1):c.115-6C>G rs368712550 0.00003
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) rs757893077 0.00003
NM_024596.5(MCPH1):c.1417A>C (p.Ile473Leu) rs1245850569 0.00003
NM_024596.5(MCPH1):c.145C>G (p.His49Asp) rs372088330 0.00003
NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) rs566242931 0.00003
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) rs538316396 0.00003
NM_024596.5(MCPH1):c.1522A>G (p.Arg508Gly) rs776261508 0.00003
NM_024596.5(MCPH1):c.1661A>T (p.Glu554Val) rs779570029 0.00003
NM_024596.5(MCPH1):c.1681del (p.Thr561fs) rs773342658 0.00003
NM_024596.5(MCPH1):c.1712C>G (p.Ser571Ter) rs371010315 0.00003
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) rs750376557 0.00003
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu) rs1085307735 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) rs776125109 0.00003
NM_024596.5(MCPH1):c.61A>G (p.Thr21Ala) rs537115782 0.00003
NM_024596.5(MCPH1):c.706G>C (p.Asp236His) rs886063057 0.00003
NM_024596.5(MCPH1):c.*277A>C rs554279740 0.00002
NM_024596.5(MCPH1):c.1285C>T (p.Leu429Phe) rs199553451 0.00002
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.1630C>G (p.Pro544Ala) rs1295124257 0.00002
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) rs561690042 0.00002
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys) rs778229284 0.00002
NM_024596.5(MCPH1):c.217G>C (p.Val73Leu) rs376364603 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_024596.5(MCPH1):c.530A>C (p.Glu177Ala) rs181765480 0.00002
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024596.5(MCPH1):c.932T>G (p.Val311Gly) rs779253079 0.00002
NM_024596.5(MCPH1):c.974C>T (p.Thr325Met) rs745348836 0.00002
NM_024596.5(MCPH1):c.*412C>T rs886063071 0.00001
NM_024596.5(MCPH1):c.*433C>G rs1159852630 0.00001
NM_024596.5(MCPH1):c.1144A>T (p.Met382Leu) rs1449134332 0.00001
NM_024596.5(MCPH1):c.1169C>T (p.Ser390Leu) rs534041070 0.00001
NM_024596.5(MCPH1):c.1336A>C (p.Ser446Arg) rs374630259 0.00001
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) rs374363568 0.00001
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly) rs1438992000 0.00001
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) rs531526435 0.00001
NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser) rs1472912410 0.00001
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) rs779924077 0.00001
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=) rs199951156 0.00001
NM_024596.5(MCPH1):c.1538C>G (p.Ala513Gly) rs774647639 0.00001
NM_024596.5(MCPH1):c.1563G>C (p.Glu521Asp) rs535274041 0.00001
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) rs759874234 0.00001
NM_024596.5(MCPH1):c.1810G>A (p.Gly604Arg) rs369120387 0.00001
NM_024596.5(MCPH1):c.1825+6T>G rs1457415233 0.00001
NM_024596.5(MCPH1):c.1850A>G (p.His617Arg) rs201041518 0.00001
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) rs767548647 0.00001
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 0.00001
NM_024596.5(MCPH1):c.1978C>G (p.Gln660Glu) rs369240170 0.00001
NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile) rs752602108 0.00001
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala) rs564538112 0.00001
NM_024596.5(MCPH1):c.2023A>G (p.Ile675Val) rs1289809517 0.00001
NM_024596.5(MCPH1):c.2078G>A (p.Arg693His) rs370011131 0.00001
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) rs187466318 0.00001
NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu) rs371941778 0.00001
NM_024596.5(MCPH1):c.502A>G (p.Ile168Val) rs752860887 0.00001
NM_024596.5(MCPH1):c.523G>A (p.Ala175Thr) rs370831760 0.00001
NM_024596.5(MCPH1):c.646A>G (p.Ile216Val) rs983967995 0.00001
NM_024596.5(MCPH1):c.701C>G (p.Ser234Cys) rs774430232 0.00001
NM_024596.5(MCPH1):c.833C>T (p.Pro278Leu) rs750528950 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024596.5(MCPH1):c.991C>T (p.Arg331Cys) rs143393335 0.00001
GRCh37/hg19 8p23.1(chr8:6223920-6284215)x1
GRCh37/hg19 8p23.1(chr8:6431852-6498404)x1
GRCh37/hg19 8p23.2-23.1(chr8:6127398-6303901)x3
GRCh37/hg19 8p23.2-23.1(chr8:6131268-6289937)x1
GRCh37/hg19 8p23.2-23.1(chr8:6136512-6266774)x1
GRCh37/hg19 8p23.2-23.1(chr8:6172625-6335548)x1
GRCh37/hg19 8p23.2-23.1(chr8:6174886-6300232)x1
GRCh37/hg19 8p23.2-23.1(chr8:6180484-6318347)x1
GRCh37/hg19 8p23.2-23.1(chr8:6188594-6291181)x1
NC_000008.10:g.(?_6264189)_(6303088_?)dup
NC_000008.10:g.(?_6500495)_(6500570_?)del
NC_000008.10:g.(?_6500495)_(6500570_?)dup
NM_024596.5(MCPH1):c.*129C>T rs548238521
NM_024596.5(MCPH1):c.*181_*184del rs886063070
NM_024596.5(MCPH1):c.*388G>T rs948143436
NM_024596.5(MCPH1):c.*38C>G rs761964470
NM_024596.5(MCPH1):c.*457C>G rs146726854
NM_024596.5(MCPH1):c.*64T>C rs1798042052
NM_024596.5(MCPH1):c.-39G>A rs768188163
NM_024596.5(MCPH1):c.-41A>C rs769260580
NM_024596.5(MCPH1):c.1024C>T (p.His342Tyr)
NM_024596.5(MCPH1):c.1025A>G (p.His342Arg)
NM_024596.5(MCPH1):c.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.1035A>G (p.Ile345Met)
NM_024596.5(MCPH1):c.1065G>T (p.Lys355Asn)
NM_024596.5(MCPH1):c.1092T>G (p.His364Gln)
NM_024596.5(MCPH1):c.1100C>T (p.Pro367Leu)
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
NM_024596.5(MCPH1):c.1139C>A (p.Ser380Tyr)
NM_024596.5(MCPH1):c.114+5G>A
NM_024596.5(MCPH1):c.114+6A>G rs377320662
NM_024596.5(MCPH1):c.1141A>G (p.Ile381Val)
NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr) rs758015103
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1188C>G (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1190T>A (p.Val397Glu)
NM_024596.5(MCPH1):c.1211C>T (p.Ala404Val)
NM_024596.5(MCPH1):c.1213C>T (p.Leu405Phe)
NM_024596.5(MCPH1):c.1241A>G (p.Asp414Gly)
NM_024596.5(MCPH1):c.1243T>G (p.Tyr415Asp)
NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser) rs199724219
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
NM_024596.5(MCPH1):c.1256A>C (p.Asp419Ala)
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) rs754200749
NM_024596.5(MCPH1):c.1306C>T (p.Pro436Ser)
NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del)
NM_024596.5(MCPH1):c.1372A>G (p.Met458Val)
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1421C>A (p.Thr474Asn)
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) rs926140350
NM_024596.5(MCPH1):c.1441A>G (p.Ile481Val)
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe) rs768776312
NM_024596.5(MCPH1):c.1442T>C (p.Ile481Thr)
NM_024596.5(MCPH1):c.146A>G (p.His49Arg) rs1799025968
NM_024596.5(MCPH1):c.1486del (p.Ser496fs)
NM_024596.5(MCPH1):c.1493G>C (p.Cys498Ser)
NM_024596.5(MCPH1):c.1552G>T (p.Ala518Ser)
NM_024596.5(MCPH1):c.1553C>T (p.Ala518Val) rs1466023730
NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1594C>A (p.Pro532Thr)
NM_024596.5(MCPH1):c.1600C>G (p.Leu534Val)
NM_024596.5(MCPH1):c.1615GAT[2] (p.Asp541del) rs1275821995
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1631C>T (p.Pro544Leu)
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1682C>G (p.Thr561Arg)
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024596.5(MCPH1):c.173G>A (p.Ser58Asn)
NM_024596.5(MCPH1):c.1777G>C (p.Glu593Gln)
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.1829T>G (p.Val610Gly)
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1853A>C (p.Asp618Ala)
NM_024596.5(MCPH1):c.1867T>C (p.Ser623Pro) rs2129556799
NM_024596.5(MCPH1):c.1871G>A (p.Cys624Tyr) rs1290757964
NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu)
NM_024596.5(MCPH1):c.1917A>C (p.Lys639Asn)
NM_024596.5(MCPH1):c.1921G>A (p.Gly641Arg)
NM_024596.5(MCPH1):c.1927G>C (p.Gly643Arg)
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.1937C>G (p.Pro646Arg) rs1403723725
NM_024596.5(MCPH1):c.1939A>T (p.Thr647Ser)
NM_024596.5(MCPH1):c.193A>G (p.Lys65Glu)
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) rs1808650754
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.1995G>C (p.Gln665His)
NM_024596.5(MCPH1):c.1996G>A (p.Val666Ile)
NM_024596.5(MCPH1):c.199G>C (p.Gly67Arg)
NM_024596.5(MCPH1):c.2009T>G (p.Leu670Trp)
NM_024596.5(MCPH1):c.2035G>A (p.Val679Ile)
NM_024596.5(MCPH1):c.2078G>T (p.Arg693Leu) rs370011131
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_024596.5(MCPH1):c.211G>A (p.Val71Ile)
NM_024596.5(MCPH1):c.2126C>T (p.Ser709Phe)
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.218T>G (p.Val73Gly)
NM_024596.5(MCPH1):c.2215-1_2215delinsTT
NM_024596.5(MCPH1):c.2215-2_2253dup
NM_024596.5(MCPH1):c.221T>G (p.Leu74Arg)
NM_024596.5(MCPH1):c.223T>G (p.Trp75Gly)
NM_024596.5(MCPH1):c.2249C>G (p.Pro750Arg)
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) rs373658774
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg) rs2129580734
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) rs587783738
NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu)
NM_024596.5(MCPH1):c.22G>A (p.Asp8Asn)
NM_024596.5(MCPH1):c.23-9T>G rs1554473238
NM_024596.5(MCPH1):c.2312C>T (p.Pro771Leu) rs1039322742
NM_024596.5(MCPH1):c.2329G>A (p.Glu777Lys)
NM_024596.5(MCPH1):c.233+6C>T
NM_024596.5(MCPH1):c.2354G>A (p.Arg785Gln)
NM_024596.5(MCPH1):c.2368C>T (p.Pro790Ser) rs1586835974
NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly) rs781673106
NM_024596.5(MCPH1):c.2386G>A (p.Val796Ile)
NM_024596.5(MCPH1):c.2399A>T (p.Tyr800Phe) rs117059261
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) rs7017210
NM_024596.5(MCPH1):c.2417_2418delinsTA (p.Ala806Val) rs2129580771
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
NM_024596.5(MCPH1):c.2426A>C (p.Lys809Thr)
NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn) rs756558938
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
NM_024596.5(MCPH1):c.2434T>C (p.Ser812Pro) rs794727105
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) rs755280764
NM_024596.5(MCPH1):c.2453-12CT[4] rs761267827
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.2462C>G (p.Thr821Ser)
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) rs1586908818
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe) rs1554492950
NM_024596.5(MCPH1):c.258T>G (p.Ile86Met)
NM_024596.5(MCPH1):c.261T>G (p.Asp87Glu)
NM_024596.5(MCPH1):c.264A>C (p.Glu88Asp)
NM_024596.5(MCPH1):c.275C>T (p.Pro92Leu)
NM_024596.5(MCPH1):c.305G>A (p.Ser102Asn) rs2290145
NM_024596.5(MCPH1):c.306C>G (p.Ser102Arg)
NM_024596.5(MCPH1):c.328T>C (p.Cys110Arg)
NM_024596.5(MCPH1):c.344A>T (p.Asp115Val)
NM_024596.5(MCPH1):c.352T>G (p.Phe118Val) rs2129554586
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
NM_024596.5(MCPH1):c.425A>T (p.Lys142Ile)
NM_024596.5(MCPH1):c.432T>A (p.Asn144Lys) rs891865529
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) rs139607465
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.437-15T>C rs886063056
NM_024596.5(MCPH1):c.437-3C>T
NM_024596.5(MCPH1):c.461T>G (p.Phe154Cys)
NM_024596.5(MCPH1):c.484T>C (p.Tyr162His) rs761012601
NM_024596.5(MCPH1):c.497T>A (p.Ile166Asn) rs765620307
NM_024596.5(MCPH1):c.565A>G (p.Asn189Asp)
NM_024596.5(MCPH1):c.569T>C (p.Leu190Pro)
NM_024596.5(MCPH1):c.571T>C (p.Ser191Pro) rs2129554944
NM_024596.5(MCPH1):c.5C>T (p.Ala2Val) rs759488210
NM_024596.5(MCPH1):c.605A>G (p.His202Arg) rs369302385
NM_024596.5(MCPH1):c.605A>T (p.His202Leu)
NM_024596.5(MCPH1):c.610A>G (p.Asn204Asp)
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) rs587783742
NM_024596.5(MCPH1):c.649T>A (p.Ser217Thr)
NM_024596.5(MCPH1):c.649T>G (p.Ser217Ala)
NM_024596.5(MCPH1):c.659C>G (p.Thr220Ser)
NM_024596.5(MCPH1):c.670+5A>C
NM_024596.5(MCPH1):c.671A>T (p.Asp224Val)
NM_024596.5(MCPH1):c.694C>G (p.His232Asp)
NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu) rs1803977781
NM_024596.5(MCPH1):c.7G>T (p.Ala3Ser) rs2129550282
NM_024596.5(MCPH1):c.818A>G (p.Asn273Ser) rs2129555606
NM_024596.5(MCPH1):c.821T>C (p.Ile274Thr)
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024596.5(MCPH1):c.952G>A (p.Ala318Thr)
NM_024596.5(MCPH1):c.961A>C (p.Met321Leu)
NM_024596.5(MCPH1):c.974C>G (p.Thr325Arg)
NM_024596.5(MCPH1):c.987G>T (p.Lys329Asn)
NM_024596.5(MCPH1):c.992G>C (p.Arg331Pro)

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