ClinVar Miner

List of variants studied for Glucose-6-phosphate transport defect by Myriad Genetics, Inc.

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001

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