ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as likely pathogenic for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)

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