ClinVar Miner

List of variants in gene MCPH1 reported as likely pathogenic

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
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.2118G>A (p.Trp706Ter) rs1427099165 0.00003
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_024596.3(MCPH1):c.1_114del
NM_024596.5(MCPH1):c.115-2A>G
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) rs745702205
NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal) rs1554476471
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) rs1809112398
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+2T>C
NM_024596.5(MCPH1):c.2215-1G>T
NM_024596.5(MCPH1):c.23-1G>A
NM_024596.5(MCPH1):c.23-1G>C rs1269068071
NM_024596.5(MCPH1):c.23-829_28del
NM_024596.5(MCPH1):c.233+2T>C
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) rs2129580766
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024596.5(MCPH1):c.321+2T>C
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024596.5(MCPH1):c.322-2A>G
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys) rs2129550760
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.437-2A>G
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) rs774692658

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