ClinVar Miner

List of variants studied for complex hereditary spastic paraplegia by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter) rs373856119 0.00002
NM_015375.3(DSTYK):c.623T>C (p.Leu208Pro)
NM_133443.4(GPT2):c.1035C>T (p.Gly345=)
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199

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