List of variants in gene ABCA4, LOC126805794 studied for age-related macular degeneration

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.3664_3669del (p.Val1222_Glu1223del)	rs1570367367
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)	rs1366653130
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)	rs1570367230
NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)
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.3862+1G>A	rs61751400

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