ClinVar Miner

List of variants reported for AGTPBP1-related disorder by Undiagnosed Diseases Network, NIH

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) rs780631499 0.00001
NM_001330701.2(AGTPBP1):c.2336-1G>T rs1554699491

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