ClinVar Miner

List of variants in gene combination ASNS, CZ1P-ASNS reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys) rs375234125 0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 0.00001
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu) rs774187768 0.00001
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1137+200_1137+205del
NM_001673.5(ASNS):c.1235A>G (p.His412Arg) rs201394816
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu) rs2115707912
NM_001673.5(ASNS):c.706del (p.Arg236fs) rs1791584683

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