ClinVar Miner

List of variants reported as likely pathogenic for microcephaly and chorioretinopathy 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter) rs776065095 0.00001
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) rs2064470709
NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5276del (p.Pro1759fs) rs746218503
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_020461.4(TUBGCP6):c.905+1G>C

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