ClinVar Miner

List of variants in gene MCPH1 reported as uncertain significance by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1759A>G (p.Ile587Val) rs372378731 0.00022
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) rs201848494 0.00007
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 0.00005
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg) rs149813931 0.00005
NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala) rs911978407 0.00004
NM_024596.5(MCPH1):c.145C>G (p.His49Asp) rs372088330 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu) rs1085307735 0.00003
NM_024596.5(MCPH1):c.217G>C (p.Val73Leu) rs376364603 0.00002
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly) rs1438992000 0.00001
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala) rs564538112 0.00001
NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser) rs199724219
NM_024596.5(MCPH1):c.146A>G (p.His49Arg) rs1799025968
NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala)
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1594C>A (p.Pro532Thr)
NM_024596.5(MCPH1):c.1600C>G (p.Leu534Val)
NM_024596.5(MCPH1):c.1921G>A (p.Gly641Arg)
NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn) rs756558938
NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu) rs1803977781

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