ClinVar Miner

List of variants in gene MCPH1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 469
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.664T>C (p.Cys222Arg) rs41313952 0.00037
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.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.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.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.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+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.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.23-4T>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+17A>G
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.2453-4C>A
NM_024596.5(MCPH1):c.2453-4C>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.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+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.581-7T>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.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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.