ClinVar Miner

List of variants in gene SLC22A5 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 0.00003
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu) rs377767445 0.00001
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu) rs758158685 0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg) rs398123692 0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1367C>G (p.Thr456Arg) rs886043153
NM_003060.4(SLC22A5):c.1486G>A (p.Gly496Arg) rs727504161
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp) rs886043206
NM_003060.4(SLC22A5):c.57C>T (p.Arg19=) rs780964945
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.824+4A>C rs727504160
NM_003060.4(SLC22A5):c.94A>C (p.Asn32His) rs727504158

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