ClinVar Miner

List of variants reported as uncertain significance for microcephaly and chorioretinopathy 1

Included ClinVar conditions (1):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00045
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr) rs200841925 0.00021
NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) rs199582514 0.00010
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_020461.4(TUBGCP6):c.4351C>G (p.Leu1451Val) rs577375585 0.00005
NM_020461.4(TUBGCP6):c.1983+4C>T rs749151104 0.00004
NM_020461.4(TUBGCP6):c.2657G>A (p.Gly886Glu) rs769027529 0.00004
NM_020461.4(TUBGCP6):c.3089C>T (p.Ser1030Leu) rs751897821 0.00004
NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp) rs764568631 0.00004
NM_020461.4(TUBGCP6):c.4626+4G>A rs771572928 0.00004
NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) rs138609686 0.00004
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu) rs557715113 0.00002
NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys) rs1282749907 0.00001
NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro) rs750475050 0.00001
NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp) rs185642293 0.00001
NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu) rs778863982 0.00001
NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala) rs755489573 0.00001
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020461.4(TUBGCP6):c.1391A>G (p.Lys464Arg) rs774132550
NM_020461.4(TUBGCP6):c.1594T>C (p.Tyr532His)
NM_020461.4(TUBGCP6):c.1956C>T (p.Arg652=)
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) rs1422096763
NM_020461.4(TUBGCP6):c.2321G>A (p.Arg774Gln)
NM_020461.4(TUBGCP6):c.2791C>T (p.Pro931Ser)
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)
NM_020461.4(TUBGCP6):c.3452T>G (p.Val1151Gly)
NM_020461.4(TUBGCP6):c.3551G>A (p.Arg1184Gln)
NM_020461.4(TUBGCP6):c.3689C>G (p.Ser1230Trp) rs201398979
NM_020461.4(TUBGCP6):c.3868A>C (p.Thr1290Pro) rs2064499588
NM_020461.4(TUBGCP6):c.3914C>A (p.Ala1305Glu)
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) rs748632851
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
NM_020461.4(TUBGCP6):c.5206G>A (p.Val1736Ile) rs762939715

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