ClinVar Miner

List of variants reported by Pfaffle Lab, University Hospital for Children and Adolescents, University of Leipzig

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.1165G>C (p.Glu389Gln) rs948326794
NM_001673.5(ASNS):c.601del (p.Met201fs) rs1481539409
NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro) rs1555549674

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