ClinVar Miner

List of variants in gene MCPH1 studied for autosomal recessive disease

Included ClinVar conditions (1196):
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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) rs2442513 0.92258
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_024596.5(MCPH1):c.*181C>G rs2433149 0.30338
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_024596.5(MCPH1):c.*502T>C rs116253794 0.01163
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_024596.5(MCPH1):c.2453-13G>A rs111713406 0.00748
NM_024596.5(MCPH1):c.*199G>A rs17317651 0.00596
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
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.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
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.1061T>C (p.Val354Ala) rs148526209 0.00054
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
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.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.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.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
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.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 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.1974-2A>G rs541042265 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.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 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.1298C>A (p.Ser433Tyr) rs757893077 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.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.215C>T (p.Ser72Leu) rs387906961 0.00003
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) rs776125109 0.00003
NM_024596.5(MCPH1):c.706G>C (p.Asp236His) rs886063057 0.00003
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) rs199422124 0.00003
NM_024596.5(MCPH1):c.*277A>C rs554279740 0.00002
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) rs561690042 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 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.135A>C (p.Lys45Asn) rs374363568 0.00001
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) rs531526435 0.00001
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) rs779924077 0.00001
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) rs759874234 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.1987G>A (p.Val663Ile) rs752602108 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.302C>G (p.Ser101Ter) rs755862917 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.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
NM_024596.5(MCPH1):c.*129C>T rs548238521
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.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.114+6A>G rs377320662
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) rs754200749
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) rs926140350
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) rs745702205
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) rs1488084787
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.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) rs1808650754
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) rs1809112398
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) rs2129559817
NM_024596.5(MCPH1):c.2136+1G>T
NM_024596.5(MCPH1):c.22+2_22+4del rs1554471681
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
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.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.23-1G>C rs1269068071
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) rs7017210
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) rs2129580766
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) rs755280764
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) rs1586908818
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
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.477del (p.Ser159_Leu160insTer)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024596.5(MCPH1):c.586del (p.Gln196fs) rs1803595754
NM_024596.5(MCPH1):c.605A>G (p.His202Arg) rs369302385
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) rs587783742
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) rs774692658
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)

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