ClinVar Miner

List of variants studied for microcephaly with intellectual disability by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697

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