ClinVar Miner

List of variants in gene SLC2A1 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+4C>T rs139492241

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