ClinVar Miner

List of variants in gene CPAP studied for Microcephaly 6, primary, autosomal recessive

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.3216+7A>G rs9318917 0.80822
NM_018451.5(CPAP):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_018451.5(CPAP):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_018451.5(CPAP):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CPAP):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_018451.5(CPAP):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_018451.5(CPAP):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_018451.5(CPAP):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_018451.5(CPAP):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_018451.5(CPAP):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_018451.5(CPAP):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_018451.5(CPAP):c.2298T>A (p.Asp766Glu) rs79951875 0.00096
NM_018451.5(CPAP):c.2571C>G (p.Ser857Arg) rs78628025 0.00094
NM_018451.5(CPAP):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_018451.5(CPAP):c.1410G>A (p.Pro470=) rs115628561 0.00054
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_018451.5(CPAP):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CPAP):c.2785A>G (p.Lys929Glu) rs141844033 0.00046
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_018451.5(CPAP):c.3080A>G (p.Gln1027Arg) rs141237492 0.00023
NM_018451.5(CPAP):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CPAP):c.1231C>T (p.Pro411Ser) rs145433187 0.00014
NM_018451.5(CPAP):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CPAP):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_018451.5(CPAP):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_018451.5(CPAP):c.659C>T (p.Ser220Leu) rs201219786 0.00008
NM_018451.5(CPAP):c.1696C>T (p.Arg566Ter) rs138228629 0.00006
NM_018451.5(CPAP):c.865+8A>G rs373509972 0.00006
NM_018451.5(CPAP):c.289dup (p.Thr97fs) rs759188041 0.00004
NM_018451.5(CPAP):c.3068G>A (p.Arg1023His) rs146950242 0.00004
NM_018451.5(CPAP):c.2111C>T (p.Thr704Ile) rs768682361 0.00002
NM_018451.5(CPAP):c.1248T>C (p.Asp416=) rs542731735 0.00001
NM_018451.5(CPAP):c.3105C>T (p.Asn1035=) rs769070143 0.00001
NC_000013.11:g.24899547C>A rs1053431940
NM_018451.5(CPAP):c.2117_2118del (p.Asp705_Ser706insTer) rs761856922
NM_018451.5(CPAP):c.221T>C (p.Leu74Pro) rs563391686
NM_018451.5(CPAP):c.3081G>T (p.Gln1027His) rs1593540180
NM_018451.5(CPAP):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CPAP):c.505_506del (p.Gln169fs)
NM_018451.5(CPAP):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu) rs35498994

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