ClinVar Miner

List of variants in gene ABCA7 studied for Alzheimer disease 9

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_019112.4(ABCA7):c.5570+5G>C rs200538373 0.00203
NM_019112.4(ABCA7):c.4886C>T (p.Ser1629Leu) rs184590335 0.00066
NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr) rs143296441 0.00044
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968 0.00039
NM_019112.4(ABCA7):c.2638C>T (p.Arg880Trp) rs866064750 0.00004
NM_019112.4(ABCA7):c.3397G>A (p.Gly1133Arg) rs762159513 0.00001
NM_019112.4(ABCA7):c.5926C>A (p.Arg1976Ser) rs906507214 0.00001
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) rs547447016
NM_019112.4(ABCA7):c.1364C>T (p.Pro455Leu)
NM_019112.4(ABCA7):c.161-2A>T rs768917670
NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys) rs746307442
NM_019112.4(ABCA7):c.2974A>G (p.Ile992Val)
NM_019112.4(ABCA7):c.3782del (p.Pro1261fs) rs2144876596
NM_019112.4(ABCA7):c.4358G>A (p.Arg1453His)
NM_019112.4(ABCA7):c.4561A>C (p.Lys1521Gln) rs1299826816
NM_019112.4(ABCA7):c.5182dup (p.Glu1728fs)
NM_019112.4(ABCA7):c.5548G>A (p.Glu1850Lys)
NM_019112.4(ABCA7):c.6253G>A (p.Asp2085Asn) rs2042963216
NM_019112.4(ABCA7):c.6377_6383dup (p.Pro2129fs) rs2042981462

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