ClinVar Miner

List of variants studied for Childhood onset GLUT1 deficiency syndrome 2 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr) rs2124448406
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739

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