ClinVar Miner

List of variants studied for complex hereditary spastic paraplegia by Progenie Molecular

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_007175.8(ERLIN2):c.660del (p.Val221fs)
NM_007175.8(ERLIN2):c.869C>T (p.Ala290Val) rs759417913
NM_022089.4(ATP13A2):c.2097del (p.Ser700fs)

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