ClinVar Miner

List of variants in gene MCPH1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
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.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.928G>A (p.Val310Ile) rs199865930 0.00051
NM_024596.5(MCPH1):c.1864G>T (p.Asp622Tyr) rs201318603 0.00041
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.1118G>C (p.Arg373Thr) rs373762532 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) rs201848494 0.00007
NM_024596.5(MCPH1):c.2404G>A (p.Gly802Arg) rs370842740 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.616A>G (p.Ser206Gly) rs200071210 0.00006
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg) rs149813931 0.00005
NM_024596.5(MCPH1):c.-10G>C rs773915060 0.00003
NM_024596.5(MCPH1):c.1661A>T (p.Glu554Val) rs779570029 0.00003
NM_024596.5(MCPH1):c.1681del (p.Thr561fs) rs773342658 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733 0.00002
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys) rs778229284 0.00002
NM_024596.5(MCPH1):c.530A>C (p.Glu177Ala) rs181765480 0.00002
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024596.5(MCPH1):c.932T>G (p.Val311Gly) rs779253079 0.00002
NM_024596.5(MCPH1):c.974C>T (p.Thr325Met) rs745348836 0.00002
NM_024596.5(MCPH1):c.701C>G (p.Ser234Cys) rs774430232 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.23-9T>G rs1554473238
NM_024596.5(MCPH1):c.2434T>C (p.Ser812Pro) rs794727105
NM_024596.5(MCPH1):c.2453-12CT[4] rs761267827
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787

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