ClinVar Miner

List of variants in gene SPATA7 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_018418.4(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.4(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.4(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.4(SPATA7):c.1395delA (p.Gln465Hisfs) rs386834243
NM_018418.4(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.4(SPATA7):c.253C>T (p.Arg85Ter) rs140287375
NM_018418.4(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018418.4(SPATA7):c.960dupA (p.Pro321Thrfs) rs386834241
SPATA7, 3-BP DEL, 1227CAC
SPATA7, 4-BP DEL, 265CTCA

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