ClinVar Miner

List of variants in gene TUBGCP6 studied for Microcephaly and chorioretinopathy, autosomal recessive, 1

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Total variants: 38
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HGVS dbSNP
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505
NM_020461.4(TUBGCP6):c.1391A>G (p.Lys464Arg)
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865
NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu)
NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) rs199582514
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) rs1422096763
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp)
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.3463C>T (p.Arg1155Trp) rs1457740942
NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp)
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.3868A>C (p.Thr1290Pro)
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu)
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr)
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs)
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) rs748632851
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394
NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) rs138609686
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019
NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala)

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