ClinVar Miner

List of variants in gene ABCA12 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.4163+20T>C rs7559069 0.99890
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_173076.3(ABCA12):c.2124A>G (p.Ala708=) rs10198064 0.25857
NM_173076.3(ABCA12):c.3033A>G (p.Pro1011=) rs10498030 0.19721
NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=) rs34351934 0.18947
NM_173076.3(ABCA12):c.888G>A (p.Val296=) rs17501837 0.18903
NM_173076.3(ABCA12):c.5400G>A (p.Thr1800=) rs16853022 0.09801
NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=) rs71428357 0.07520
NM_173076.3(ABCA12):c.2295G>A (p.Glu765=) rs10185368 0.02050
NM_173076.3(ABCA12):c.5469-16T>C rs142349854 0.00796
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_173076.3(ABCA12):c.1892G>A (p.Arg631Gln) rs76979001 0.00253
NM_173076.3(ABCA12):c.2868T>G (p.Val956=) rs141615275 0.00154
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.5619A>T (p.Val1873=) rs186944029 0.00117
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu) rs143513000 0.00105
NM_173076.3(ABCA12):c.1743C>G (p.Asp581Glu) rs144534912 0.00104
NM_173076.3(ABCA12):c.2209G>A (p.Glu737Lys) rs145499495 0.00103
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_173076.3(ABCA12):c.1062-8T>A rs190613499 0.00082
NM_173076.3(ABCA12):c.1287+9T>C rs372326315 0.00063
NM_173076.3(ABCA12):c.3360A>G (p.Gly1120=) rs143190147 0.00044
NM_173076.3(ABCA12):c.2742A>G (p.Leu914=) rs367676072 0.00037
NM_173076.3(ABCA12):c.3276A>G (p.Lys1092=) rs150510675 0.00033
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro) rs189141015 0.00022
NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=) rs202141656 0.00020
NM_173076.3(ABCA12):c.4782C>T (p.Ala1594=) rs146990068 0.00018
NM_173076.3(ABCA12):c.4914C>T (p.Leu1638=) rs762663171 0.00007
NM_173076.3(ABCA12):c.4614C>T (p.Asp1538=) rs540623115 0.00003
NM_173076.3(ABCA12):c.1411C>T (p.Leu471=) rs547232067 0.00001
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
NM_173076.3(ABCA12):c.1179A>G (p.Pro393=)
NM_173076.3(ABCA12):c.1422C>T (p.Leu474=)
NM_173076.3(ABCA12):c.163+5G>A
NM_173076.3(ABCA12):c.1842A>G (p.Leu614=)
NM_173076.3(ABCA12):c.2139C>T (p.Asn713=)
NM_173076.3(ABCA12):c.2445C>T (p.Asn815=)
NM_173076.3(ABCA12):c.3294+4T>C
NM_173076.3(ABCA12):c.4065T>C (p.Tyr1355=)
NM_173076.3(ABCA12):c.450C>T (p.Pro150=)
NM_173076.3(ABCA12):c.4533A>G (p.Pro1511=) rs140742656
NM_173076.3(ABCA12):c.4579+4T>G
NM_173076.3(ABCA12):c.4579+8T>G
NM_173076.3(ABCA12):c.4689C>T (p.Tyr1563=)
NM_173076.3(ABCA12):c.4697A>G (p.Glu1566Gly)
NM_173076.3(ABCA12):c.5127T>C (p.Asp1709=)
NM_173076.3(ABCA12):c.5571T>A (p.Pro1857=)
NM_173076.3(ABCA12):c.993C>T (p.Ser331=)

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