List of variants reported as pathogenic for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 by Fulgent Genetics, Fulgent Genetics

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Total variants: 75

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	rs61749455	0.00194
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	rs61749454	0.00089
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	rs200692438	0.00033
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	rs1801269	0.00022
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	rs61750152	0.00016
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	rs779585931	0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	rs752786160	0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	rs150774447	0.00004
NM_000350.3(ABCA4):c.4773+3A>G	rs759672616	0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	rs55732384	0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	rs145961131	0.00002
NM_000350.3(ABCA4):c.3050+5G>A	rs61751262	0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	rs201855602	0.00002
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	rs62654397	0.00001
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)	rs911580078	0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)	rs61749433	0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)	rs765429911	0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	rs61750065	0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	rs61751398	0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	rs62645946	0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	rs768278935	0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.4253+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	rs758835368	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	rs61750567	0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	rs760549861	0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	rs61750575	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	rs61753038	0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	rs61750652	0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	rs61750658	0.00001
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	rs61752390
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)	rs1557787756
NM_000350.3(ABCA4):c.1760+2T>G	rs61751385
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)	rs61749418
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	rs62654395
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	rs865990202
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)	rs757302286
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	rs61748529
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	rs61749451
NM_000350.3(ABCA4):c.302+4A>C	rs1662599697
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	rs138641544
NM_000350.3(ABCA4):c.4253+5G>T	rs61750138
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	rs62646872
NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)
NM_000350.3(ABCA4):c.5714+1G>A	rs1232476760
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	rs61753039
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)	rs757557272
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	rs63749055
NM_000350.3(ABCA4):c.6729+5_6729+19del	rs749526785
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)	rs794727903

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