ClinVar Miner

List of variants studied for microcephaly with intellectual disability by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) rs759545352 0.00011
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) rs374363568 0.00001
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) rs2129559817
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039

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