ClinVar Miner

List of variants in gene SLC2A10 reported as pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000020.11:g.(?_46709727)_(46733844_?)del
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861

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