ClinVar Miner

List of variants reported as pathogenic for complex cortical dysplasia with other brain malformations by OMIM

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001282597.3(CTNNA2):c.2788C>T (p.Arg930Ter) rs760139097 0.00001
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001070.5(TUBG1):c.1160T>C (p.Leu387Pro) rs398123045
NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys) rs398123046
NM_001070.5(TUBG1):c.991A>C (p.Thr331Pro) rs398123047
NM_001098511.3(KIF2A):c.950G>A (p.Ser317Asn) rs587777034
NM_001098511.3(KIF2A):c.961C>G (p.His321Asp) rs587777033
NM_001282597.3(CTNNA2):c.1480C>T (p.Arg494Ter) rs778294237
NM_001282597.3(CTNNA2):c.2341C>T (p.Arg781Ter) rs1413537928
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004522.3(KIF5C):c.710A>T (p.Glu237Val) rs587777035
NM_005883.3(APC2):c.1081C>T (p.Gln361Ter) rs1472207337
NM_005883.3(APC2):c.2840_2846del (p.Leu947fs) rs1599155642
NM_005883.3(APC2):c.6645del (p.Ala2217fs) rs1599166793
NM_005883.3(APC2):c.737C>A (p.Ser246Ter) rs1599137041
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) rs878853279
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) rs878853257
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) rs878853258
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) rs878853256
NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs) rs1835535749
NM_015447.4(CAMSAP1):c.1831A>T (p.Lys611Ter)
NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)
NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)
NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter) rs1835459356
NM_015656.2(KIF26A):c.2161C>T (p.Arg721Cys)
NM_015656.2(KIF26A):c.2845C>T (p.Pro949Ser)
NM_015656.2(KIF26A):c.3440dup (p.Ala1148fs)
NM_015656.2(KIF26A):c.4676C>T (p.Ala1559Val)
NM_015656.2(KIF26A):c.4804C>T (p.Arg1602Trp)
NM_015656.2(KIF26A):c.4870C>T (p.Arg1624Cys)
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn) rs397514567
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro) rs397514569
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro) rs137853194
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) rs137853195
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe) rs878853284
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) rs137853196
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile) rs587777356
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355

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