ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784
NM_018418.5(SPATA7):c.191-14C>A rs60770744
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677

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