ClinVar Miner

List of variants in gene SPATA7 studied for Retinal dystrophy

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Total variants: 32
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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.1601G>A (p.Arg534Gln) rs10139784 0.04245
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.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_018418.5(SPATA7):c.1269G>A (p.Ser423=) rs149387181 0.00004
NM_018418.5(SPATA7):c.995T>C (p.Ile332Thr) rs534658921 0.00004
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile) rs767454994 0.00003
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) rs750676893 0.00002
NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln) rs199825301 0.00002
NM_018418.5(SPATA7):c.1180G>A (p.Glu394Lys) rs199649645 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val) rs769211713 0.00001
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_018418.5(SPATA7):c.1032A>G (p.Ala344=)
NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.109T>G (p.Ser37Ala)
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.1226G>A (p.Arg409His)
NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del) rs878853386
NM_018418.5(SPATA7):c.1453T>C (p.Phe485Leu) rs1566790849
NM_018418.5(SPATA7):c.1774A>G (p.Ile592Val)
NM_018418.5(SPATA7):c.264A>G (p.Lys88=)
NM_018418.5(SPATA7):c.311A>G (p.Lys104Arg) rs2076490012
NM_018418.5(SPATA7):c.441A>G (p.Ala147=)
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.610A>G (p.Arg204Gly)
NM_018418.5(SPATA7):c.730A>G (p.Thr244Ala)
NM_018418.5(SPATA7):c.751T>G (p.Ser251Ala)
NM_018418.5(SPATA7):c.845+1G>A rs761981554
NM_018418.5(SPATA7):c.915A>G (p.Ala305=)

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