ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg) rs138050875 0.00006
NM_015087.5(SPART):c.466C>T (p.Pro156Ser) rs202174672 0.00005
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe) rs1440975141
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln) rs147348068
NM_015346.4(ZFYVE26):c.1293T>A (p.Asp431Glu) rs747236724
NM_015346.4(ZFYVE26):c.1838T>G (p.Leu613Trp) rs758520387
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_025137.4(SPG11):c.1735+4A>G rs2141056546

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