ClinVar Miner

List of variants reported as uncertain significance for Primary Microcephaly, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_018249.6(CDK5RAP2):c.-159G>A rs554211842 0.00115
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330 0.00092
NM_018249.6(CDK5RAP2):c.-172C>T rs781380022 0.00074
NM_018249.6(CDK5RAP2):c.1727+15C>G rs188328236 0.00071
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906 0.00011
NM_001083961.2(WDR62):c.*45G>C rs769679657 0.00008
NM_001194998.2(CEP152):c.*231C>T rs531587783 0.00006
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_001048166.1(STIL):c.111G>C (p.Thr37=) rs777971224 0.00003
NM_001048166.1(STIL):c.196T>C (p.Tyr66His) rs761410037 0.00001
NM_001083961.2(WDR62):c.4339G>A (p.Gly1447Arg) rs769860430 0.00001
NM_018136.5(ASPM):c.-10C>G rs886045780 0.00001
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_001083961.2(WDR62):c.3220+4G>C rs199678831
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_018136.5(ASPM):c.2936+11_2936+14del rs745619939
NM_018136.5(ASPM):c.4730T>A (p.Val1577Asp) rs886045774
NM_018136.5(ASPM):c.5467CAA[1] (p.Gln1824del) rs748503995
NM_018136.5(ASPM):c.8474_8476del (p.Phe2825del) rs780677950
NM_018249.6(CDK5RAP2):c.-151C>A rs886063402
NM_018249.6(CDK5RAP2):c.1859-14dup rs747385902
NM_018451.5(CENPJ):c.*743ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_024596.5(MCPH1):c.*181_*184del rs886063070

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