ClinVar Miner

List of variants in gene STT3A studied for STT3A-congenital disorder of glycosylation

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152713.5(STT3A):c.996G>A (p.Ser332=) rs2241502 0.39463
NM_152713.5(STT3A):c.961+25C>T rs6590153 0.39437
NM_152713.5(STT3A):c.1117+12C>T rs2241501 0.27654
NM_152713.5(STT3A):c.1310G>A (p.Arg437His) rs776079118 0.00002
NM_152713.5(STT3A):c.1775-8dup rs750373548
NM_152713.5(STT3A):c.1877T>C (p.Val626Ala) rs587777216
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) rs1939729667

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