ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for Stargardt disease 1

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Total variants: 30
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HGVS dbSNP
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
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.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
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.5478C>T (p.Asn1826=) rs762632312
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5714+4C>T rs376586802
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057

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