ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.678A>G (p.Gln226=) rs876657407
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217

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