ClinVar Miner

List of variants in gene SLC7A9 reported as benign for Cystinuria

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.874-39A>G rs2287879 0.70645
NM_014270.5(SLC7A9):c.-172T>A rs2287876 0.63605
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_014270.5(SLC7A9):c.507C>T (p.Ser169=) rs11084673 0.32264
NM_014270.5(SLC7A9):c.687C>T (p.Leu229=) rs1007161 0.31957
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=) rs2287881 0.22930
NM_014270.5(SLC7A9):c.399C>T (p.Ser133=) rs35170371 0.22541
NM_014270.5(SLC7A9):c.*79T>C rs2287884 0.18414
NM_014270.5(SLC7A9):c.-39C>T rs11084677 0.14818
NM_014270.5(SLC7A9):c.478+10T>C rs6510300 0.10753
NM_014270.5(SLC7A9):c.604+10G>A rs11084672 0.09952
NM_014270.5(SLC7A9):c.411T>C (p.Cys137=) rs12150890 0.09440

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