ClinVar Miner

List of variants studied for spinal muscular atrophy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs) rs2148627334
NM_001130438.3(SPTAN1):c.3388C>T (p.Gln1130Ter)
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) rs774853645
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003

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