ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy 102 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006841.6(SLC38A3):c.1049C>A (p.Ser350Ter) rs1368316485
NM_006841.6(SLC38A3):c.1119del (p.Val373_Leu374insTer) rs2109158868
NM_006841.6(SLC38A3):c.1123A>C (p.Thr375Pro) rs2109158872
NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter) rs2109159077
NM_006841.6(SLC38A3):c.855+1G>T rs2109157808

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