ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
GRCh37/hg19 9q33.1(chr9:119448976-119461984)x1
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1161_1168dup (p.Arg390fs) rs1861028831
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs) rs1554732623
NM_012210.4(TRIM32):c.509T>A (p.Leu170Ter) rs886044692
NM_012210.4(TRIM32):c.918dup (p.Trp307fs) rs1554733019

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