ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)	rs1335783881	0.00001
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)	rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)	rs1002531030
NM_013432.5(TONSL):c.866-1G>C	rs1424148372

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