ClinVar Miner

List of variants studied for Leber congenital amaurosis 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969 0.39047
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448 0.30943
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665 0.03818
NM_018418.5(SPATA7):c.191-14C>A rs60770744 0.03598
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) rs112976233 0.01543
NM_018418.5(SPATA7):c.-95C>T rs114796215 0.00515
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727 0.00218
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_018418.5(SPATA7):c.-111G>A rs886050871 0.00041
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) rs202230167 0.00021
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517 0.00021
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu) rs148392950 0.00017
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly) rs376502749 0.00014
NM_018418.5(SPATA7):c.-112A>C rs550675797 0.00013
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613 0.00011
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982 0.00010
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) rs200231959 0.00010
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380 0.00009
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) rs139510848 0.00009
NM_018418.5(SPATA7):c.1216-4C>T rs755958987 0.00007
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr) rs143812944 0.00007
NM_018418.5(SPATA7):c.1028+5A>G rs368848333 0.00004
NM_018418.5(SPATA7):c.913-14T>A rs185459765 0.00004
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) rs750676893 0.00002
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) rs140192398 0.00001
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr) rs886050874 0.00001
NM_018418.5(SPATA7):c.19+7G>A rs199560035 0.00001
NM_018418.5(SPATA7):c.372+11A>G rs757636745 0.00001
NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu) rs1469531734 0.00001
NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu) rs760214171 0.00001
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val) rs769211713 0.00001
NM_018418.5(SPATA7):c.-32G>T rs200780988
NM_018418.5(SPATA7):c.-62G>A rs886050872
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys) rs776604824
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile) rs886050873
NM_018418.5(SPATA7):c.1236G>A (p.Leu412=) rs2077132550
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly) rs1203146338
NM_018418.5(SPATA7):c.1611T>C (p.Ser537=) rs1399885444
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=) rs886050875
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys) rs2076795225
NM_018418.5(SPATA7):c.654G>T (p.Ser218=) rs1566779741

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