ClinVar Miner

List of variants in gene SPATA7 studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_018418.5(SPATA7):c.-111G>A rs886050871
NM_018418.5(SPATA7):c.-112A>C rs550675797
NM_018418.5(SPATA7):c.-32G>T rs200780988
NM_018418.5(SPATA7):c.-62G>A rs886050872
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.1216-4C>T rs755958987
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile) rs886050873
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) rs140192398
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) rs200231959
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) rs139510848
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr) rs886050874
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=) rs886050875
NM_018418.5(SPATA7):c.191-14C>A rs60770744
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613
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.372+11A>G rs757636745
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517
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.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_018418.5(SPATA7):c.913-14T>A rs185459765
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677

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