ClinVar Miner

List of variants in gene MCPH1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 146
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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.2136+292G>A rs1550689 0.98688
NM_024596.5(MCPH1):c.233+128T>A rs2515417 0.97012
NM_024596.5(MCPH1):c.233+77C>G rs2442545 0.97009
NM_024596.5(MCPH1):c.233+73A>G rs2515415 0.97007
NM_024596.5(MCPH1):c.115-101G>T rs2440437 0.96959
NM_024596.5(MCPH1):c.1935+107C>T rs2515575 0.94160
NM_024596.5(MCPH1):c.234-141A>T rs2251956 0.72069
NM_024596.5(MCPH1):c.581-56A>G rs2053618 0.69853
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.233+137del rs3214738 0.64286
NM_024596.5(MCPH1):c.115-130G>A rs2442546 0.64172
NM_024596.4(MCPH1):c.-59G>C rs2305023 0.63721
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.2452+285G>A rs2011423 0.38601
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_024596.5(MCPH1):c.2452+70G>T rs11137041 0.33699
NM_024596.5(MCPH1):c.23-107C>T rs1550698 0.33375
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.233+53T>G rs2305021 0.25908
NM_024596.5(MCPH1):c.2137-280C>T rs34744896 0.24345
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_024596.5(MCPH1):c.436+183C>T rs3816402 0.22312
NM_024596.5(MCPH1):c.2452+220A>G rs2515559 0.19985
NM_024596.5(MCPH1):c.2136+267T>G rs12677501 0.15367
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_024596.5(MCPH1):c.1974-297C>G rs13282116 0.14671
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_024596.5(MCPH1):c.1973+56T>C rs2277136 0.12539
NM_024596.5(MCPH1):c.114+66A>G rs1550696 0.11621
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_024596.5(MCPH1):c.513= (p.Arg171=) rs2442513 0.07742
NM_024596.5(MCPH1):c.321+163A>G rs77310992 0.07234
NM_024596.5(MCPH1):c.436+326A>G rs77104350 0.07227
NM_024596.5(MCPH1):c.437-129G>A rs74448908 0.07186
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06799
NM_024596.5(MCPH1):c.580+277A>T rs567244080 0.05285
NM_024596.5(MCPH1):c.115-148T>C rs17076773 0.05121
NM_024596.5(MCPH1):c.1973+226G>C rs1550691 0.04972
NM_024596.5(MCPH1):c.2452+148C>G rs890223 0.04546
NM_024596.5(MCPH1):c.2215-249C>A rs71525742 0.04483
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_024596.5(MCPH1):c.2453-130G>A rs7005925 0.03077
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.2136+298T>C rs7005212 0.02293
NM_024596.5(MCPH1):c.2452+3494A>G rs2448612 0.02224
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_024596.5(MCPH1):c.1973+301C>G rs73661774 0.01554
NM_024596.5(MCPH1):c.2452+97C>T rs115375310 0.01552
NM_024596.5(MCPH1):c.1936-42_1936-41insA rs111731804 0.01550
NM_024596.5(MCPH1):c.671-176T>G rs62496812 0.01548
NM_024596.5(MCPH1):c.115-56A>G rs76553875 0.01515
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.233+289A>T rs78101455 0.01147
NC_000008.11:g.6406587C>T rs190692683 0.01025
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.114+187T>C rs114102079 0.00758
NM_024596.5(MCPH1):c.2453-13G>A rs111713406 0.00748
NM_024596.5(MCPH1):c.1974-130G>A rs115299416 0.00729
NM_024596.5(MCPH1):c.2136+74A>G rs79036233 0.00703
NM_024596.5(MCPH1):c.1936-87A>C rs2979667 0.00695
NM_024596.5(MCPH1):c.*199G>A rs17317651 0.00596
NM_024596.5(MCPH1):c.2452+313G>A rs143238857 0.00586
NM_024596.5(MCPH1):c.321+215C>G rs78909070 0.00500
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_024596.5(MCPH1):c.1974-306C>T rs143254256 0.00391
NM_024596.5(MCPH1):c.2137-293A>G rs184911152 0.00363
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.1781C>T (p.Thr594Met) rs115033462 0.00319
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.1236T>C (p.Tyr412=) rs142858644 0.00120
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.321+47C>T rs192919183 0.00049
NM_024596.5(MCPH1):c.436+46A>G rs200561926 0.00047
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.1759A>G (p.Ile587Val) rs372378731 0.00022
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
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.1930A>G (p.Lys644Glu) rs201848494 0.00007
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) rs770989341 0.00006
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 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.1408A>G (p.Thr470Ala) rs911978407 0.00004
NM_024596.5(MCPH1):c.145C>G (p.His49Asp) rs372088330 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.2118G>A (p.Trp706Ter) rs1427099165 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.217G>C (p.Val73Leu) rs376364603 0.00002
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly) rs1438992000 0.00001
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala) rs564538112 0.00001
NC_000008.11:g.6406552G>T rs2916655
NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser) rs199724219
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.146A>G (p.His49Arg) rs1799025968
NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal) rs1554476471
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.1921G>A (p.Gly641Arg)
NM_024596.5(MCPH1):c.1974-236A>G rs13248420
NM_024596.5(MCPH1):c.2136+228A>G rs140616360
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.23-159C>G rs112503494
NM_024596.5(MCPH1):c.23-233G>C rs148784485
NM_024596.5(MCPH1):c.233+139A>C rs55687318
NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn) rs756558938
NM_024596.5(MCPH1):c.2453-271C>A rs2433148
NM_024596.5(MCPH1):c.2453-271C>T rs2433148
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) rs1424203921
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_024596.5(MCPH1):c.322-232T>C rs2979642
NM_024596.5(MCPH1):c.322-291G>T rs138429838
NM_024596.5(MCPH1):c.322-2A>T
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.436+105A>G rs2916757
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024596.5(MCPH1):c.580+276dup rs201822930
NM_024596.5(MCPH1):c.580+284_580+285dup rs34298347
NM_024596.5(MCPH1):c.580+285dup rs34298347
NM_024596.5(MCPH1):c.581-29C>A rs140161935
NM_024596.5(MCPH1):c.670+203dup rs34324014
NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu) rs1803977781

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