ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) rs111033571 0.00001
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.116_122del (p.Cys39fs) rs1554732594
NM_012210.4(TRIM32):c.1194dup (p.Thr399fs)
NM_012210.4(TRIM32):c.1378del (p.His460fs)
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)
NM_012210.4(TRIM32):c.1612G>T (p.Glu538Ter)
NM_012210.4(TRIM32):c.385C>T (p.Gln129Ter)
NM_012210.4(TRIM32):c.700C>T (p.Gln234Ter) rs886043553

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