ClinVar Miner

List of variants in gene SLC2A1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 19
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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.417C>T (p.Phe139=) rs144538918 0.00517
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.315del (p.Ser106fs) rs1570593595
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006516.4(SLC2A1):c.679+7G>C rs13306757

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