List of variants in gene combination ABCA4, LOC126805793 reported as uncertain significance for ABCA4-related retinopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	rs113106943	0.00232
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	rs1762111	0.00132
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	rs185093512	0.00006
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)	rs377398404	0.00002
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	rs767980304	0.00001
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)	rs1571258567
NM_000350.3(ABCA4):c.4774-9G>A	rs2101023661
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)	rs1265079301
NM_000350.3(ABCA4):c.4849-8C>G	rs372461600
NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)	rs2523693193

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