List of variants in gene ABCA4 reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	rs77293072	0.02574
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	rs61748519	0.00185
NM_000350.3(ABCA4):c.2588-12C>G	rs61751396	0.00183
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)	rs145483148	0.00120
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)	rs201150919	0.00100
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)	rs139050119	0.00097
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)	rs61753057	0.00054
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)	rs61754033	0.00041
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	rs143263315	0.00037
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	rs201602424	0.00014
NM_000350.3(ABCA4):c.5714+4C>T	rs376586802	0.00009
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	rs762632312	0.00008
NM_000350.3(ABCA4):c.4539+2028C>T	rs869320785	0.00004
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)	rs139109485	0.00002
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)	rs886044724	0.00001
NM_000350.3(ABCA4):c.2919-10T>C	rs886044733	0.00001
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)	rs886044739	0.00001
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)	rs886044757	0.00001
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)	rs886044729
NM_000350.3(ABCA4):c.180G>C (p.Ala60=)	rs756647171
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)	rs886044734
NM_000350.3(ABCA4):c.4540-2036C>A	rs886044743
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)	rs138475920
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)	rs886044744
NM_000350.3(ABCA4):c.5196+1013A>G	rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G	rs886044749
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)	rs886044723

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