ClinVar Miner

List of variants in gene MCPH1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 513
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_024596.5(MCPH1):c.2452+97C>T rs115375310 0.01552
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.233+289A>T rs78101455 0.01147
NC_000008.11:g.6406587C>T rs190692683 0.01025
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.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.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.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
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.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) rs148526209 0.00054
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.2013A>G (p.Lys671=) rs371498495 0.00034
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.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024596.5(MCPH1):c.1055C>T (p.Ser352Phe) rs532399692 0.00016
NM_024596.5(MCPH1):c.165C>A (p.Gly55=) rs772896845 0.00012
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1866C>T (p.Asp622=) rs754393094 0.00010
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) rs200814676 0.00009
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.1909T>C (p.Leu637=) rs200346036 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) rs770989341 0.00006
NM_024596.5(MCPH1):c.804A>G (p.Val268=) rs759039958 0.00006
NM_024596.5(MCPH1):c.2133T>C (p.Asp711=) rs375451164 0.00005
NM_024596.5(MCPH1):c.75A>G (p.Ser25=) rs760499374 0.00005
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.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.2355G>T (p.Arg785=) rs760206052 0.00004
NM_024596.5(MCPH1):c.1005C>A (p.Thr335=) rs755771006 0.00003
NM_024596.5(MCPH1):c.115-6C>G rs368712550 0.00003
NM_024596.5(MCPH1):c.1329C>T (p.Ser443=) rs775492524 0.00003
NM_024596.5(MCPH1):c.1485T>C (p.Thr495=) rs565739739 0.00003
NM_024596.5(MCPH1):c.15C>T (p.Ile5=) rs757247746 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.1389C>T (p.Cys463=) rs371566184 0.00002
NM_024596.5(MCPH1):c.1809C>T (p.Pro603=) rs757697166 0.00002
NM_024596.5(MCPH1):c.1936-6C>A rs779947393 0.00002
NM_024596.5(MCPH1):c.22+12C>T rs779918939 0.00002
NM_024596.5(MCPH1):c.1101G>A (p.Pro367=) rs201084851 0.00001
NM_024596.5(MCPH1):c.1263T>A (p.Leu421=) rs754252510 0.00001
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=) rs199951156 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.2064C>T (p.Ser688=) rs368480838 0.00001
NM_024596.5(MCPH1):c.2215-12T>G rs780921843 0.00001
NM_024596.5(MCPH1):c.2346C>T (p.Cys782=) rs372319072 0.00001
NM_024596.5(MCPH1):c.2367C>T (p.Val789=) rs764585700 0.00001
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) rs187466318 0.00001
NM_024596.5(MCPH1):c.576C>T (p.Pro192=) rs1803099137 0.00001
NM_024596.5(MCPH1):c.585C>A (p.Ser195=) rs1338908640 0.00001
NM_024596.5(MCPH1):c.670+12A>T rs540930467 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.975G>A (p.Thr325=) rs556632758 0.00001
NM_024596.5(MCPH1):c.1005C>G (p.Thr335=)
NM_024596.5(MCPH1):c.1005C>T (p.Thr335=)
NM_024596.5(MCPH1):c.1014A>C (p.Ser338=)
NM_024596.5(MCPH1):c.1017A>G (p.Thr339=)
NM_024596.5(MCPH1):c.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.1032G>A (p.Leu344=)
NM_024596.5(MCPH1):c.1038T>C (p.His346=)
NM_024596.5(MCPH1):c.1042A>C (p.Arg348=)
NM_024596.5(MCPH1):c.1050G>A (p.Arg350=)
NM_024596.5(MCPH1):c.1059A>G (p.Ser353=)
NM_024596.5(MCPH1):c.1065G>A (p.Lys355=)
NM_024596.5(MCPH1):c.1095A>C (p.Ser365=)
NM_024596.5(MCPH1):c.1101G>C (p.Pro367=)
NM_024596.5(MCPH1):c.111A>C (p.Ala37=)
NM_024596.5(MCPH1):c.1125G>A (p.Arg375=)
NM_024596.5(MCPH1):c.1134G>A (p.Arg378=)
NM_024596.5(MCPH1):c.114+10T>C
NM_024596.5(MCPH1):c.114+12A>G
NM_024596.5(MCPH1):c.114+13T>C
NM_024596.5(MCPH1):c.114+13T>G
NM_024596.5(MCPH1):c.114+18C>A
NM_024596.5(MCPH1):c.114+20G>T
NM_024596.5(MCPH1):c.114+7C>T
NM_024596.5(MCPH1):c.114+8A>G
NM_024596.5(MCPH1):c.114+8_114+9del
NM_024596.5(MCPH1):c.114+9C>G
NM_024596.5(MCPH1):c.1149G>A (p.Pro383=)
NM_024596.5(MCPH1):c.115-13A>G
NM_024596.5(MCPH1):c.115-15G>A
NM_024596.5(MCPH1):c.115-4A>G
NM_024596.5(MCPH1):c.115-5T>C
NM_024596.5(MCPH1):c.115-6C>T
NM_024596.5(MCPH1):c.1152G>A (p.Arg384=)
NM_024596.5(MCPH1):c.1155G>A (p.Leu385=)
NM_024596.5(MCPH1):c.1159C>T (p.Leu387=)
NM_024596.5(MCPH1):c.1164C>T (p.Cys388=)
NM_024596.5(MCPH1):c.1167G>A (p.Arg389=)
NM_024596.5(MCPH1):c.1170G>A (p.Ser390=)
NM_024596.5(MCPH1):c.1175_1176delinsGG (p.Asp392Gly)
NM_024596.5(MCPH1):c.1188C>T (p.His396=)
NM_024596.5(MCPH1):c.1191G>T (p.Val397=)
NM_024596.5(MCPH1):c.1194G>A (p.Ala398=)
NM_024596.5(MCPH1):c.1194G>C (p.Ala398=)
NM_024596.5(MCPH1):c.1194G>T (p.Ala398=)
NM_024596.5(MCPH1):c.1197A>C (p.Gly399=)
NM_024596.5(MCPH1):c.1197A>G (p.Gly399=)
NM_024596.5(MCPH1):c.120A>G (p.Ser40=)
NM_024596.5(MCPH1):c.1233A>C (p.Ser411=)
NM_024596.5(MCPH1):c.1239T>C (p.Asp413=)
NM_024596.5(MCPH1):c.1270A>C (p.Arg424=)
NM_024596.5(MCPH1):c.1275T>C (p.Tyr425=)
NM_024596.5(MCPH1):c.1296A>G (p.Glu432=)
NM_024596.5(MCPH1):c.1311A>C (p.Ser437=)
NM_024596.5(MCPH1):c.1314C>T (p.Ser438=)
NM_024596.5(MCPH1):c.1324T>C (p.Leu442=)
NM_024596.5(MCPH1):c.1326G>A (p.Leu442=)
NM_024596.5(MCPH1):c.1332C>T (p.Cys444=)
NM_024596.5(MCPH1):c.1341T>C (p.Leu447=)
NM_024596.5(MCPH1):c.1344T>A (p.Ser448=) rs201825242
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1354A>C (p.Arg452=)
NM_024596.5(MCPH1):c.1359A>G (p.Thr453=)
NM_024596.5(MCPH1):c.135A>G (p.Lys45=)
NM_024596.5(MCPH1):c.1386C>G (p.Ser462=)
NM_024596.5(MCPH1):c.1386C>T (p.Ser462=)
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1416C>T (p.Asp472=)
NM_024596.5(MCPH1):c.141A>T (p.Val47=)
NM_024596.5(MCPH1):c.1422C>G (p.Thr474=)
NM_024596.5(MCPH1):c.1434A>C (p.Ala478=)
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe) rs768776312
NM_024596.5(MCPH1):c.1453C>A (p.Arg485=)
NM_024596.5(MCPH1):c.1467T>C (p.Asn489=)
NM_024596.5(MCPH1):c.1476C>T (p.Gly492=)
NM_024596.5(MCPH1):c.147C>T (p.His49=)
NM_024596.5(MCPH1):c.1488G>A (p.Ser496=)
NM_024596.5(MCPH1):c.1488G>C (p.Ser496=)
NM_024596.5(MCPH1):c.1500T>A (p.Thr500=)
NM_024596.5(MCPH1):c.1500T>G (p.Thr500=)
NM_024596.5(MCPH1):c.1506C>G (p.Ala502=)
NM_024596.5(MCPH1):c.1509T>G (p.Pro503=)
NM_024596.5(MCPH1):c.1512A>G (p.Glu504=)
NM_024596.5(MCPH1):c.1519C>T (p.Leu507=)
NM_024596.5(MCPH1):c.1524G>A (p.Arg508=)
NM_024596.5(MCPH1):c.1527T>C (p.Cys509=)
NM_024596.5(MCPH1):c.153C>T (p.Ile51=)
NM_024596.5(MCPH1):c.1551C>T (p.Asp517=)
NM_024596.5(MCPH1):c.1554A>G (p.Ala518=)
NM_024596.5(MCPH1):c.1557C>T (p.Cys519=)
NM_024596.5(MCPH1):c.1560A>T (p.Pro520=)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.156C>T (p.Phe52=)
NM_024596.5(MCPH1):c.1611A>G (p.Gly537=)
NM_024596.5(MCPH1):c.1614T>C (p.His538=)
NM_024596.5(MCPH1):c.1629T>A (p.Thr543=)
NM_024596.5(MCPH1):c.162T>C (p.Asp54=)
NM_024596.5(MCPH1):c.1647T>G (p.Leu549=)
NM_024596.5(MCPH1):c.1653A>G (p.Glu551=)
NM_024596.5(MCPH1):c.165C>G (p.Gly55=)
NM_024596.5(MCPH1):c.1662A>G (p.Glu554=)
NM_024596.5(MCPH1):c.1665G>A (p.Ala555=) rs772338945
NM_024596.5(MCPH1):c.1672C>T (p.Leu558=)
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1704C>A (p.Ser568=)
NM_024596.5(MCPH1):c.1707A>G (p.Lys569=)
NM_024596.5(MCPH1):c.1728C>G (p.Gly576=)
NM_024596.5(MCPH1):c.1749G>A (p.Glu583=)
NM_024596.5(MCPH1):c.174C>T (p.Ser58=)
NM_024596.5(MCPH1):c.1764T>C (p.Val588=)
NM_024596.5(MCPH1):c.1770T>C (p.Cys590=)
NM_024596.5(MCPH1):c.177T>C (p.Thr59=)
NM_024596.5(MCPH1):c.1791A>G (p.Glu597=)
NM_024596.5(MCPH1):c.1800A>G (p.Glu600=)
NM_024596.5(MCPH1):c.1809C>G (p.Pro603=)
NM_024596.5(MCPH1):c.1825+11C>T
NM_024596.5(MCPH1):c.1825+15T>C
NM_024596.5(MCPH1):c.1825+16T>C
NM_024596.5(MCPH1):c.1825+19C>G
NM_024596.5(MCPH1):c.1826-12C>G
NM_024596.5(MCPH1):c.1826-15C>A
NM_024596.5(MCPH1):c.1826-17A>G
NM_024596.5(MCPH1):c.1830T>C (p.Val610=)
NM_024596.5(MCPH1):c.1836T>C (p.Asn612=)
NM_024596.5(MCPH1):c.183C>T (p.Asp61=)
NM_024596.5(MCPH1):c.1875C>T (p.Asp625=)
NM_024596.5(MCPH1):c.1878C>G (p.Gly626=)
NM_024596.5(MCPH1):c.1893C>A (p.Ile631=)
NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu)
NM_024596.5(MCPH1):c.189T>A (p.Ala63=)
NM_024596.5(MCPH1):c.18G>A (p.Leu6=)
NM_024596.5(MCPH1):c.18G>C (p.Leu6=)
NM_024596.5(MCPH1):c.1920T>C (p.Ser640=)
NM_024596.5(MCPH1):c.1929C>T (p.Gly643=) rs2129556811
NM_024596.5(MCPH1):c.1935+7G>A
NM_024596.5(MCPH1):c.1935+8T>G
NM_024596.5(MCPH1):c.1936-12del
NM_024596.5(MCPH1):c.1936-15G>A
NM_024596.5(MCPH1):c.1936-15G>C
NM_024596.5(MCPH1):c.1936-16T>G
NM_024596.5(MCPH1):c.1936-4C>G
NM_024596.5(MCPH1):c.1936-4C>T
NM_024596.5(MCPH1):c.1938A>T (p.Pro646=)
NM_024596.5(MCPH1):c.1944A>G (p.Arg648=)
NM_024596.5(MCPH1):c.1947A>G (p.Thr649=)
NM_024596.5(MCPH1):c.1950A>G (p.Leu650=)
NM_024596.5(MCPH1):c.1953C>G (p.Val651=)
NM_024596.5(MCPH1):c.1953C>T (p.Val651=)
NM_024596.5(MCPH1):c.1968A>G (p.Pro656=)
NM_024596.5(MCPH1):c.1973+16G>C
NM_024596.5(MCPH1):c.1973+17A>G
NM_024596.5(MCPH1):c.1973+19T>C
NM_024596.5(MCPH1):c.1974-10G>A rs762333683
NM_024596.5(MCPH1):c.1974-10G>C
NM_024596.5(MCPH1):c.1974-10G>T
NM_024596.5(MCPH1):c.1974-11C>G
NM_024596.5(MCPH1):c.1974-11C>T
NM_024596.5(MCPH1):c.1974-13C>G
NM_024596.5(MCPH1):c.1974-15C>T
NM_024596.5(MCPH1):c.1974-19T>A
NM_024596.5(MCPH1):c.1974-4A>G
NM_024596.5(MCPH1):c.1974-7T>A
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.1986C>T (p.Val662=)
NM_024596.5(MCPH1):c.1992C>A (p.Ile664=)
NM_024596.5(MCPH1):c.1998T>C (p.Val666=)
NM_024596.5(MCPH1):c.2016C>G (p.Gly672=)
NM_024596.5(MCPH1):c.201C>T (p.Gly67=)
NM_024596.5(MCPH1):c.2031A>G (p.Pro677=)
NM_024596.5(MCPH1):c.2034C>T (p.Asp678=)
NM_024596.5(MCPH1):c.2037C>G (p.Val679=)
NM_024596.5(MCPH1):c.2046C>T (p.Thr682=)
NM_024596.5(MCPH1):c.2049G>A (p.Thr683=)
NM_024596.5(MCPH1):c.204A>G (p.Val68=)
NM_024596.5(MCPH1):c.2055C>T (p.His685=)
NM_024596.5(MCPH1):c.2058G>A (p.Val686=)
NM_024596.5(MCPH1):c.2064C>G (p.Ser688=)
NM_024596.5(MCPH1):c.2067G>A (p.Gly689=)
NM_024596.5(MCPH1):c.2073A>G (p.Pro691=)
NM_024596.5(MCPH1):c.2076T>G (p.Leu692=)
NM_024596.5(MCPH1):c.2082C>G (p.Thr694=)
NM_024596.5(MCPH1):c.2085G>C (p.Leu695=) rs771162185
NM_024596.5(MCPH1):c.2091G>A (p.Val697=)
NM_024596.5(MCPH1):c.2092C>T (p.Leu698=)
NM_024596.5(MCPH1):c.2094G>A (p.Leu698=)
NM_024596.5(MCPH1):c.2095C>T (p.Leu699=)
NM_024596.5(MCPH1):c.2112C>A (p.Gly704=)
NM_024596.5(MCPH1):c.2112C>G (p.Gly704=)
NM_024596.5(MCPH1):c.2112C>T (p.Gly704=)
NM_024596.5(MCPH1):c.2124C>G (p.Leu708=)
NM_024596.5(MCPH1):c.2130T>C (p.Tyr710=)
NM_024596.5(MCPH1):c.2136+10G>A
NM_024596.5(MCPH1):c.2136+15T>C
NM_024596.5(MCPH1):c.2136+16G>T rs1437857424
NM_024596.5(MCPH1):c.2136+18A>G
NM_024596.5(MCPH1):c.2136+19C>T
NM_024596.5(MCPH1):c.2136+20T>A
NM_024596.5(MCPH1):c.2136+20T>G
NM_024596.5(MCPH1):c.2136+228A>G rs140616360
NM_024596.5(MCPH1):c.2136+8C>A
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.216G>C (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.219G>T (p.Val73=)
NM_024596.5(MCPH1):c.22+10T>C
NM_024596.5(MCPH1):c.22+13C>T
NM_024596.5(MCPH1):c.22+18G>A
NM_024596.5(MCPH1):c.22+19C>T
NM_024596.5(MCPH1):c.22+8A>G
NM_024596.5(MCPH1):c.2215-12_2215-9del
NM_024596.5(MCPH1):c.2215-13G>A
NM_024596.5(MCPH1):c.2215-14T>C
NM_024596.5(MCPH1):c.2215-15C>T
NM_024596.5(MCPH1):c.2215-15_2215-14del
NM_024596.5(MCPH1):c.2215-17C>G
NM_024596.5(MCPH1):c.2215-19A>C
NM_024596.5(MCPH1):c.2215-19_2215-16del
NM_024596.5(MCPH1):c.2215-19_2215-18del
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
NM_024596.5(MCPH1):c.2215-20T>C
NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG rs2129580717
NM_024596.5(MCPH1):c.2223A>G (p.Arg741=)
NM_024596.5(MCPH1):c.222C>G (p.Leu74=)
NM_024596.5(MCPH1):c.2244A>C (p.Ala748=)
NM_024596.5(MCPH1):c.2247G>A (p.Gly749=)
NM_024596.5(MCPH1):c.2250G>A (p.Pro750=)
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2265C>G (p.Leu755=)
NM_024596.5(MCPH1):c.2268T>C (p.Phe756=)
NM_024596.5(MCPH1):c.2271C>T (p.Ala757=)
NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)
NM_024596.5(MCPH1):c.2283G>A (p.Ala761=)
NM_024596.5(MCPH1):c.2292C>T (p.Val764=)
NM_024596.5(MCPH1):c.23-10_23-9del
NM_024596.5(MCPH1):c.23-11C>G
NM_024596.5(MCPH1):c.23-20T>C
NM_024596.5(MCPH1):c.23-233G>C rs148784485
NM_024596.5(MCPH1):c.23-4T>C
NM_024596.5(MCPH1):c.23-8G>C
NM_024596.5(MCPH1):c.23-8_23-5dup
NM_024596.5(MCPH1):c.2307C>T (p.Ser769=)
NM_024596.5(MCPH1):c.2310C>T (p.Pro770=)
NM_024596.5(MCPH1):c.2322G>A (p.Lys774=)
NM_024596.5(MCPH1):c.2325C>G (p.Leu775=)
NM_024596.5(MCPH1):c.233+11TC[2]
NM_024596.5(MCPH1):c.233+12C>G
NM_024596.5(MCPH1):c.233+14C>G
NM_024596.5(MCPH1):c.233+14_233+17del
NM_024596.5(MCPH1):c.233+16C>G
NM_024596.5(MCPH1):c.233+16C>T
NM_024596.5(MCPH1):c.233+19A>C
NM_024596.5(MCPH1):c.233+20C>G
NM_024596.5(MCPH1):c.233+8G>C
NM_024596.5(MCPH1):c.233+8G>T
NM_024596.5(MCPH1):c.233+9T>G
NM_024596.5(MCPH1):c.2332C>T (p.Leu778=)
NM_024596.5(MCPH1):c.2337C>T (p.Val779=)
NM_024596.5(MCPH1):c.234-10A>C
NM_024596.5(MCPH1):c.234-19C>T
NM_024596.5(MCPH1):c.234-4A>G
NM_024596.5(MCPH1):c.234-6A>G
NM_024596.5(MCPH1):c.234-6A>T
NM_024596.5(MCPH1):c.2341C>T (p.Leu781=) rs577592270
NM_024596.5(MCPH1):c.2343G>A (p.Leu781=)
NM_024596.5(MCPH1):c.2353C>A (p.Arg785=)
NM_024596.5(MCPH1):c.2358C>A (p.Val786=) rs2129580759
NM_024596.5(MCPH1):c.2358C>T (p.Val786=)
NM_024596.5(MCPH1):c.2361C>T (p.Ser787=)
NM_024596.5(MCPH1):c.2367C>A (p.Val789=)
NM_024596.5(MCPH1):c.2367C>G (p.Val789=)
NM_024596.5(MCPH1):c.2370C>T (p.Pro790=) rs1586835998
NM_024596.5(MCPH1):c.2379C>T (p.Ala793=)
NM_024596.5(MCPH1):c.2385C>T (p.Ile795=)
NM_024596.5(MCPH1):c.2388C>T (p.Val796=)
NM_024596.5(MCPH1):c.2391C>T (p.Ile797=)
NM_024596.5(MCPH1):c.2397C>A (p.Pro799=)
NM_024596.5(MCPH1):c.2397C>G (p.Pro799=)
NM_024596.5(MCPH1):c.2403C>T (p.Ser801=)
NM_024596.5(MCPH1):c.2409G>A (p.Lys803=)
NM_024596.5(MCPH1):c.240G>A (p.Arg80=)
NM_024596.5(MCPH1):c.2418C>G (p.Ala806=)
NM_024596.5(MCPH1):c.2421A>G (p.Thr807=)
NM_024596.5(MCPH1):c.2427G>A (p.Lys809=)
NM_024596.5(MCPH1):c.2430T>C (p.Tyr810=)
NM_024596.5(MCPH1):c.2436T>C (p.Ser812=)
NM_024596.5(MCPH1):c.2436T>G (p.Ser812=)
NM_024596.5(MCPH1):c.2452+10C>T
NM_024596.5(MCPH1):c.2452+11A>C
NM_024596.5(MCPH1):c.2452+14C>A
NM_024596.5(MCPH1):c.2452+14CA[2]
NM_024596.5(MCPH1):c.2452+176C>G
NM_024596.5(MCPH1):c.2452+17A>G
NM_024596.5(MCPH1):c.2452+4309G>A
NM_024596.5(MCPH1):c.2452+7del
NM_024596.5(MCPH1):c.2453-10C>G
NM_024596.5(MCPH1):c.2453-12CT[6]
NM_024596.5(MCPH1):c.2453-17T>C
NM_024596.5(MCPH1):c.2453-19C>T
NM_024596.5(MCPH1):c.2453-271C>A rs2433148
NM_024596.5(MCPH1):c.2453-4C>A
NM_024596.5(MCPH1):c.2453-4C>G
NM_024596.5(MCPH1):c.2453-5080C>G
NM_024596.5(MCPH1):c.2460C>T (p.Ile820=)
NM_024596.5(MCPH1):c.2463C>T (p.Thr821=)
NM_024596.5(MCPH1):c.246T>G (p.Ala82=)
NM_024596.5(MCPH1):c.2472G>A (p.Lys824=)
NM_024596.5(MCPH1):c.2484T>G (p.Pro828=)
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp) rs587783740
NM_024596.5(MCPH1):c.2490C>T (p.Asn830=)
NM_024596.5(MCPH1):c.2494C>T (p.Leu832=)
NM_024596.5(MCPH1):c.2496A>G (p.Leu832=)
NM_024596.5(MCPH1):c.2497T>C (p.Leu833=)
NM_024596.5(MCPH1):c.2499G>A (p.Leu833=)
NM_024596.5(MCPH1):c.2502A>C (p.Ser834=)
NM_024596.5(MCPH1):c.252A>G (p.Ala84=)
NM_024596.5(MCPH1):c.258T>C (p.Ile86=)
NM_024596.5(MCPH1):c.279A>G (p.Ala93=) rs759764698
NM_024596.5(MCPH1):c.279A>T (p.Ala93=)
NM_024596.5(MCPH1):c.27A>G (p.Val9=)
NM_024596.5(MCPH1):c.294A>G (p.Glu98=)
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.5(MCPH1):c.321+12A>T
NM_024596.5(MCPH1):c.321+18A>G
NM_024596.5(MCPH1):c.321+20G>T
NM_024596.5(MCPH1):c.321+8C>T
NM_024596.5(MCPH1):c.321+9A>C
NM_024596.5(MCPH1):c.321+9A>G
NM_024596.5(MCPH1):c.322-10T>C
NM_024596.5(MCPH1):c.322-12_322-10del
NM_024596.5(MCPH1):c.322-12_322-11del
NM_024596.5(MCPH1):c.322-13T>C
NM_024596.5(MCPH1):c.322-13dup
NM_024596.5(MCPH1):c.322-14T>C
NM_024596.5(MCPH1):c.322-17G>A
NM_024596.5(MCPH1):c.322-17G>C rs147245957
NM_024596.5(MCPH1):c.322-18T>A
NM_024596.5(MCPH1):c.322-19T>C
NM_024596.5(MCPH1):c.322-291G>T rs138429838
NM_024596.5(MCPH1):c.327A>G (p.Lys109=)
NM_024596.5(MCPH1):c.33C>G (p.Ala11=)
NM_024596.5(MCPH1):c.366A>G (p.Glu122=)
NM_024596.5(MCPH1):c.369T>C (p.Asn123=)
NM_024596.5(MCPH1):c.36T>C (p.Tyr12=)
NM_024596.5(MCPH1):c.414A>G (p.Leu138=)
NM_024596.5(MCPH1):c.423A>G (p.Gln141=)
NM_024596.5(MCPH1):c.432T>C (p.Asn144=) rs891865529
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.436+10G>T
NM_024596.5(MCPH1):c.436+13A>G
NM_024596.5(MCPH1):c.436+15A>G
NM_024596.5(MCPH1):c.436+18A>G
NM_024596.5(MCPH1):c.436+20A>G
NM_024596.5(MCPH1):c.437-12G>A
NM_024596.5(MCPH1):c.437-12G>C
NM_024596.5(MCPH1):c.437-12_437-9del rs773256253
NM_024596.5(MCPH1):c.437-19A>G
NM_024596.5(MCPH1):c.437-19A>T
NM_024596.5(MCPH1):c.437-20G>T
NM_024596.5(MCPH1):c.437-4T>C
NM_024596.5(MCPH1):c.441T>C (p.Asp147=)
NM_024596.5(MCPH1):c.456C>T (p.Leu152=)
NM_024596.5(MCPH1):c.457T>C (p.Leu153=)
NM_024596.5(MCPH1):c.45G>T (p.Val15=)
NM_024596.5(MCPH1):c.477A>C (p.Ser159=) rs41313948
NM_024596.5(MCPH1):c.486T>C (p.Tyr162=)
NM_024596.5(MCPH1):c.510T>C (p.Ser170=)
NM_024596.5(MCPH1):c.522C>T (p.Ser174=)
NM_024596.5(MCPH1):c.525A>C (p.Ala175=)
NM_024596.5(MCPH1):c.543A>G (p.Gln181=)
NM_024596.5(MCPH1):c.54C>G (p.Ser18=)
NM_024596.5(MCPH1):c.54C>T (p.Ser18=)
NM_024596.5(MCPH1):c.552G>A (p.Lys184=)
NM_024596.5(MCPH1):c.558A>G (p.Lys186=)
NM_024596.5(MCPH1):c.561G>A (p.Arg187=)
NM_024596.5(MCPH1):c.567T>C (p.Asn189=)
NM_024596.5(MCPH1):c.576C>G (p.Pro192=)
NM_024596.5(MCPH1):c.580+12G>A
NM_024596.5(MCPH1):c.580+16G>T
NM_024596.5(MCPH1):c.580+17T>A
NM_024596.5(MCPH1):c.580+17T>C
NM_024596.5(MCPH1):c.580+19A>C
NM_024596.5(MCPH1):c.580+276dup rs201822930
NM_024596.5(MCPH1):c.580+284_580+285dup rs34298347
NM_024596.5(MCPH1):c.580+8_580+11del
NM_024596.5(MCPH1):c.581-11C>A
NM_024596.5(MCPH1):c.581-13G>T
NM_024596.5(MCPH1):c.581-14G>T
NM_024596.5(MCPH1):c.581-17C>G
NM_024596.5(MCPH1):c.581-29C>A rs140161935
NM_024596.5(MCPH1):c.581-7T>C
NM_024596.5(MCPH1):c.581-8G>C
NM_024596.5(MCPH1):c.597G>A (p.Gln199=)
NM_024596.5(MCPH1):c.627G>A (p.Leu209=) rs375026958
NM_024596.5(MCPH1):c.627G>T (p.Leu209=)
NM_024596.5(MCPH1):c.633A>G (p.Glu211=)
NM_024596.5(MCPH1):c.639T>G (p.Pro213=)
NM_024596.5(MCPH1):c.670+12A>C
NM_024596.5(MCPH1):c.670+12A>G
NM_024596.5(MCPH1):c.670+3_670+19dup rs1441683402
NM_024596.5(MCPH1):c.671-15G>A
NM_024596.5(MCPH1):c.671-16C>T
NM_024596.5(MCPH1):c.671-17C>T
NM_024596.5(MCPH1):c.671-20T>C
NM_024596.5(MCPH1):c.671-7T>G
NM_024596.5(MCPH1):c.678C>T (p.Tyr226=)
NM_024596.5(MCPH1):c.681T>C (p.Phe227=)
NM_024596.5(MCPH1):c.696C>T (p.His232=)
NM_024596.5(MCPH1):c.6G>A (p.Ala2=)
NM_024596.5(MCPH1):c.72T>C (p.Tyr24=)
NM_024596.5(MCPH1):c.741G>A (p.Gln247=)
NM_024596.5(MCPH1):c.759A>G (p.Gly253=)
NM_024596.5(MCPH1):c.771C>T (p.Asp257=)
NM_024596.5(MCPH1):c.783T>C (p.Asp261=)
NM_024596.5(MCPH1):c.805T>C (p.Leu269=)
NM_024596.5(MCPH1):c.81A>C (p.Thr27=)
NM_024596.5(MCPH1):c.828A>G (p.Ser276=)
NM_024596.5(MCPH1):c.834A>G (p.Pro278=)
NM_024596.5(MCPH1):c.843T>C (p.Thr281=)
NM_024596.5(MCPH1):c.849C>T (p.Leu283=)
NM_024596.5(MCPH1):c.876G>T (p.Leu292=)
NM_024596.5(MCPH1):c.87A>C (p.Thr29=)
NM_024596.5(MCPH1):c.906G>A (p.Leu302=)
NM_024596.5(MCPH1):c.90A>T (p.Thr30=)
NM_024596.5(MCPH1):c.921A>G (p.Ala307=)
NM_024596.5(MCPH1):c.924T>C (p.Gly308=)
NM_024596.5(MCPH1):c.942C>T (p.Asp314=)
NM_024596.5(MCPH1):c.954T>G (p.Ala318=)
NM_024596.5(MCPH1):c.957A>G (p.Ala319=)
NM_024596.5(MCPH1):c.969G>A (p.Gln323=)
NM_024596.5(MCPH1):c.987G>A (p.Lys329=)
NM_024596.5(MCPH1):c.999T>G (p.Ser333=)
NM_024596.5(MCPH1):c.99G>A (p.Val33=)
NM_024596.5(MCPH1):c.9C>G (p.Ala3=)
NM_024596.5(MCPH1):c.9C>T (p.Ala3=)

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