ClinVar Miner

List of variants in gene ABCA12 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2868T>G (p.Val956=) rs141615275 0.00154
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.1132T>C (p.Leu378=) rs75723433 0.00108
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.5691-3T>C rs180759568 0.00099
NM_173076.3(ABCA12):c.3294+14C>G rs199937047 0.00087
NM_173076.3(ABCA12):c.1287+9T>C rs372326315 0.00063
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val) rs145178648 0.00057
NM_173076.3(ABCA12):c.2185T>C (p.Leu729=) rs149155738 0.00048
NM_173076.3(ABCA12):c.1296A>G (p.Gln432=) rs149243979 0.00045
NM_173076.3(ABCA12):c.510G>A (p.Leu170=) rs142897482 0.00039
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr) rs142196906 0.00037
NM_173076.3(ABCA12):c.3276A>G (p.Lys1092=) rs150510675 0.00033
NM_173076.3(ABCA12):c.3930C>T (p.Gly1310=) rs145550325 0.00031
NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=) rs202141656 0.00020
NM_173076.3(ABCA12):c.1427C>T (p.Ala476Val) rs370640837 0.00018
NM_173076.3(ABCA12):c.4782C>T (p.Ala1594=) rs146990068 0.00018
NM_173076.3(ABCA12):c.5143A>C (p.Arg1715=) rs749849028 0.00011
NM_173076.3(ABCA12):c.5381C>T (p.Ala1794Val) rs191005935 0.00011
NM_173076.3(ABCA12):c.426T>C (p.Ser142=) rs144934213 0.00010
NM_173076.3(ABCA12):c.5563-6T>C rs768380865 0.00008
NM_173076.3(ABCA12):c.5086G>A (p.Asp1696Asn) rs147973580 0.00007
NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu) rs181314573 0.00007
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) rs151083083 0.00007
NM_173076.3(ABCA12):c.3248C>G (p.Ala1083Gly) rs748695468 0.00006
NM_173076.3(ABCA12):c.5690+13G>A rs202217871 0.00006
NM_173076.3(ABCA12):c.693+8T>C rs542193860 0.00006
NM_173076.3(ABCA12):c.3933C>T (p.Leu1311=) rs140847485 0.00005
NM_173076.3(ABCA12):c.880C>G (p.Leu294Val) rs757610542 0.00005
NM_173076.3(ABCA12):c.4907G>A (p.Arg1636Gln) rs146836452 0.00004
NM_173076.3(ABCA12):c.4942G>A (p.Gly1648Arg) rs771800911 0.00004
NM_173076.3(ABCA12):c.-8T>C rs765549092 0.00003
NM_173076.3(ABCA12):c.1783-15T>C rs200719111 0.00003
NM_173076.3(ABCA12):c.3829+12C>T rs773085763 0.00003
NM_173076.3(ABCA12):c.4351A>T (p.Thr1451Ser) rs201123321 0.00003
NM_173076.3(ABCA12):c.5129-15C>T rs754273310 0.00003
NM_173076.3(ABCA12):c.5592G>A (p.Pro1864=) rs770673079 0.00003
NM_173076.3(ABCA12):c.5849G>A (p.Arg1950Gln) rs778296113 0.00003
NM_173076.3(ABCA12):c.693+1G>A rs957637813 0.00003
NM_173076.3(ABCA12):c.3829+11G>A rs760440581 0.00002
NM_173076.3(ABCA12):c.3976+12C>T rs748949261 0.00002
NM_173076.3(ABCA12):c.1033A>C (p.Thr345Pro) rs1295935868 0.00001
NM_173076.3(ABCA12):c.1166C>T (p.Ala389Val) rs757602412 0.00001
NM_173076.3(ABCA12):c.1174T>C (p.Ser392Pro) rs369251597 0.00001
NM_173076.3(ABCA12):c.1411C>T (p.Leu471=) rs547232067 0.00001
NM_173076.3(ABCA12):c.1515T>G (p.Asp505Glu) rs775951517 0.00001
NM_173076.3(ABCA12):c.1769A>C (p.Asp590Ala) rs748402637 0.00001
NM_173076.3(ABCA12):c.2204C>T (p.Thr735Ile) rs547695393 0.00001
NM_173076.3(ABCA12):c.2304T>C (p.Ala768=) rs774152349 0.00001
NM_173076.3(ABCA12):c.2333-14C>A rs760155135 0.00001
NM_173076.3(ABCA12):c.2384C>T (p.Pro795Leu) rs1288749121 0.00001
NM_173076.3(ABCA12):c.3806G>C (p.Trp1269Ser) rs764741924 0.00001
NM_173076.3(ABCA12):c.4125A>G (p.Ser1375=) rs746914291 0.00001
NM_173076.3(ABCA12):c.4164T>G (p.Ile1388Met) rs759223757 0.00001
NM_173076.3(ABCA12):c.4282G>A (p.Val1428Ile) rs886055609 0.00001
NM_173076.3(ABCA12):c.4660G>A (p.Gly1554Arg) rs368513379 0.00001
NM_173076.3(ABCA12):c.4915G>A (p.Asp1639Asn) rs886055608 0.00001
NM_173076.3(ABCA12):c.5020A>G (p.Met1674Val) rs757369005 0.00001
NM_173076.3(ABCA12):c.5354G>C (p.Gly1785Ala) rs112434185 0.00001
NM_173076.3(ABCA12):c.5386T>C (p.Tyr1796His) rs137974203 0.00001
NM_173076.3(ABCA12):c.5480A>G (p.Asn1827Ser) rs1020205670 0.00001
NM_173076.3(ABCA12):c.5690+4A>C rs759768965 0.00001
NM_173076.3(ABCA12):c.-218A>C rs1703278801
NM_173076.3(ABCA12):c.1186C>G (p.Leu396Val) rs886055612
NM_173076.3(ABCA12):c.1420C>T (p.Leu474Phe) rs886055611
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=) rs574023538
NM_173076.3(ABCA12):c.1514A>T (p.Asp505Val) rs1700579348
NM_173076.3(ABCA12):c.152C>A (p.Ala51Glu) rs764100720
NM_173076.3(ABCA12):c.1565A>C (p.Gln522Pro) rs1700576165
NM_173076.3(ABCA12):c.2159G>A (p.Gly720Glu) rs886055610
NM_173076.3(ABCA12):c.2276C>G (p.Thr759Ser) rs202059558
NM_173076.3(ABCA12):c.281G>A (p.Arg94His) rs371904475
NM_173076.3(ABCA12):c.3911A>G (p.Lys1304Arg) rs199499787
NM_173076.3(ABCA12):c.4243A>C (p.Thr1415Pro) rs1699723370
NM_173076.3(ABCA12):c.4250G>A (p.Arg1417Gln) rs78964730
NM_173076.3(ABCA12):c.4533A>G (p.Pro1511=) rs140742656
NM_173076.3(ABCA12):c.5381+11_5381+14del rs568420119
NM_173076.3(ABCA12):c.5633C>A (p.Thr1878Asn) rs886055607
NM_173076.3(ABCA12):c.833C>T (p.Ser278Leu) rs886055613

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