ClinVar Miner

List of variants in gene MCPH1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 90
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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.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.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.513= (p.Arg171=) rs2442513 0.07742
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.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.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.1845A>C (p.Thr615=) rs186547090 0.00403
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.2466G>A (p.Gln822=) rs35614690 0.00169
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
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.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.1480G>A (p.Ala494Thr) rs183880522 0.00060
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.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.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) rs35402812 0.00022
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.2499G>T (p.Leu833Phe) rs34009706 0.00016
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.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
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.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
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.2136G>T (p.Trp712Cys) rs778229284 0.00002
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
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.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.22+2_22+4del rs1554471681
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.2257G>C (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu) rs1057090
NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly) rs1057090
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) rs587783738
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
NM_024596.5(MCPH1):c.2452+49C>G rs41306051
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe) rs1554492950
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp) rs587783740
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys) rs2129550760
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.614C>T (p.Pro205Leu) rs587783742
NM_024596.5(MCPH1):c.670+31G>A rs2922827

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