ClinVar Miner

List of variants in gene MCPH1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) rs35614690 0.00169
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) rs138218829 0.00089
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) rs148526209 0.00054
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.1894A>G (p.Lys632Glu) rs377464331 0.00037
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) rs35402812 0.00022
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) rs34009706 0.00016
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=) rs587783732 0.00004
NM_024596.5(MCPH1):c.1630C>G (p.Pro544Ala) rs1295124257 0.00002
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys) rs778229284 0.00002
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr) rs758015103
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) rs587783738
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe) rs1554492950
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) rs139607465
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) rs587783742

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