ClinVar Miner

List of variants in gene ATL1 reported as not provided for hereditary spastic paraplegia

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) rs751861796 0.00006
NM_015915.5(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.129C>G (p.Asp43Glu) rs17850684
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.5(ATL1):c.578T>G (p.Phe193Cys) rs17850683
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.749T>G (p.Leu250Arg)
NM_015915.5(ATL1):c.773A>G (p.His258Arg) rs119476048

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