ClinVar Miner

List of variants in gene ABCA4, LOC126805794 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000350.3(ABCA4):c.3608-35A>G rs372604876 0.00008
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896 0.00003
NM_000350.3(ABCA4):c.3608-1G>A
NM_000350.3(ABCA4):c.3613G>A (p.Val1205Ile)
NM_000350.3(ABCA4):c.3625A>C (p.Met1209Leu)
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del) rs1570367367
NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter) rs1057517869
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro) rs1366653130
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.3727T>G (p.Tyr1243Asp)
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter) rs1570367230
NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)
NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) rs61752423
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs) rs1570367144
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly) rs1660360744
NM_000350.3(ABCA4):c.3814-2A>T rs1660350150
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1]) rs62642572
NM_000350.3(ABCA4):c.3862+1G>A rs61751400

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