ClinVar Miner

List of variants in gene combination ABCA12, SNHG31 reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.7105-17C>T rs2274412 0.52421
NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=) rs10498027 0.40571
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02279
NM_173076.3(ABCA12):c.5925C>T (p.Asp1975=) rs6740406 0.01647
NM_173076.3(ABCA12):c.6501C>T (p.Asp2167=) rs143387234 0.00655
NM_173076.3(ABCA12):c.6648G>T (p.Arg2216Ser) rs145031776 0.00597
NM_173076.3(ABCA12):c.5979C>G (p.Ile1993Met) rs73088469 0.00329
NM_173076.3(ABCA12):c.6393+6G>T rs139569530 0.00228
NM_173076.3(ABCA12):c.6819A>G (p.Val2273=) rs139505019 0.00213
NM_173076.3(ABCA12):c.6208G>A (p.Val2070Ile) rs145980660 0.00171
NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile) rs146834697 0.00143
NM_173076.3(ABCA12):c.7468T>C (p.Leu2490=) rs149561952 0.00130
NM_173076.3(ABCA12):c.6690A>G (p.Thr2230=) rs111355716 0.00106
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val) rs150196545 0.00105
NM_173076.3(ABCA12):c.6294C>T (p.Ala2098=) rs149433838 0.00076
NM_173076.3(ABCA12):c.7597G>A (p.Ala2533Thr) rs140033094 0.00054
NM_173076.3(ABCA12):c.6704A>C (p.Glu2235Ala) rs138504099 0.00043
NM_173076.3(ABCA12):c.7543-17T>C rs375199055 0.00038
NM_173076.3(ABCA12):c.7343+8G>A rs200488843 0.00036
NM_173076.3(ABCA12):c.6962+5G>A rs201877187 0.00033
NM_173076.3(ABCA12):c.6162G>A (p.Ala2054=) rs143237945 0.00031
NM_173076.3(ABCA12):c.6611G>A (p.Arg2204Gln) rs138995566 0.00021
NM_173076.3(ABCA12):c.6695A>G (p.Asp2232Gly) rs200553166 0.00017
NM_173076.3(ABCA12):c.7436+15C>T rs577863211 0.00016
NM_173076.3(ABCA12):c.7102G>A (p.Glu2368Lys) rs376611510 0.00015
NM_173076.3(ABCA12):c.7324G>A (p.Val2442Ile) rs148434996 0.00015
NM_173076.3(ABCA12):c.7515G>A (p.Gln2505=) rs368978989 0.00015
NM_173076.3(ABCA12):c.6269G>A (p.Gly2090Glu) rs373470929 0.00013
NM_173076.3(ABCA12):c.6624C>T (p.Asn2208=) rs201965977 0.00011
NM_173076.3(ABCA12):c.7566G>A (p.Glu2522=) rs774329868 0.00010
NM_173076.3(ABCA12):c.6149T>C (p.Ile2050Thr) rs533349856 0.00009
NM_173076.3(ABCA12):c.7436+20C>T rs1022481655 0.00009
NM_173076.3(ABCA12):c.6159T>A (p.Ile2053=) rs201569862 0.00008
NM_173076.3(ABCA12):c.5927A>T (p.Gln1976Leu) rs558563793 0.00007
NM_173076.3(ABCA12):c.6000C>T (p.Thr2000=) rs140550530 0.00007
NM_173076.3(ABCA12):c.6078C>T (p.Gly2026=) rs529364926 0.00007
NM_173076.3(ABCA12):c.6154A>G (p.Ile2052Val) rs368283339 0.00007
NM_173076.3(ABCA12):c.6534T>C (p.Asn2178=) rs748816074 0.00007
NM_173076.3(ABCA12):c.6546G>C (p.Glu2182Asp) rs145969422 0.00007
NM_173076.3(ABCA12):c.7731C>T (p.Thr2577=) rs534593648 0.00007
NM_173076.3(ABCA12):c.7343+10G>A rs576859285 0.00006
NM_173076.3(ABCA12):c.6003C>T (p.Thr2001=) rs146471691 0.00005
NM_173076.3(ABCA12):c.6462C>T (p.Tyr2154=) rs200584463 0.00005
NM_173076.3(ABCA12):c.6492G>A (p.Ser2164=) rs151250060 0.00005
NM_173076.3(ABCA12):c.6564A>C (p.Ala2188=) rs750409003 0.00005
NM_173076.3(ABCA12):c.6618A>G (p.Leu2206=) rs576646428 0.00005
NM_173076.3(ABCA12):c.6962+12T>C rs183990041 0.00005
NM_173076.3(ABCA12):c.6975C>T (p.His2325=) rs561972447 0.00005
NM_173076.3(ABCA12):c.7389G>A (p.Val2463=) rs202031511 0.00005
NM_173076.3(ABCA12):c.6102C>T (p.Asn2034=) rs139124977 0.00004
NM_173076.3(ABCA12):c.6416C>T (p.Thr2139Ile) rs747323347 0.00004
NM_173076.3(ABCA12):c.6447A>G (p.Gln2149=) rs147074166 0.00004
NM_173076.3(ABCA12):c.6515A>T (p.Tyr2172Phe) rs371804152 0.00004
NM_173076.3(ABCA12):c.6543T>C (p.Phe2181=) rs367715782 0.00004
NM_173076.3(ABCA12):c.6942T>C (p.Ile2314=) rs146750785 0.00004
NM_173076.3(ABCA12):c.7367G>C (p.Cys2456Ser) rs150618783 0.00004
NM_173076.3(ABCA12):c.7581C>T (p.Val2527=) rs990165100 0.00004
NM_173076.3(ABCA12):c.5885-9G>A rs574892120 0.00003
NM_173076.3(ABCA12):c.5955C>T (p.Ile1985=) rs138503581 0.00003
NM_173076.3(ABCA12):c.6118-6C>T rs181559226 0.00003
NM_173076.3(ABCA12):c.6141G>A (p.Ala2047=) rs754194195 0.00003
NM_173076.3(ABCA12):c.6945G>C (p.Leu2315=) rs765759527 0.00003
NM_173076.3(ABCA12):c.6976G>A (p.Val2326Ile) rs761340026 0.00003
NM_173076.3(ABCA12):c.7137G>C (p.Leu2379=) rs774514604 0.00003
NM_173076.3(ABCA12):c.7240-17T>C rs372303751 0.00003
NM_173076.3(ABCA12):c.7314C>T (p.Asn2438=) rs1308077743 0.00003
NM_173076.3(ABCA12):c.6444A>T (p.Pro2148=) rs568164233 0.00002
NM_173076.3(ABCA12):c.6504C>T (p.Phe2168=) rs143361410 0.00002
NM_173076.3(ABCA12):c.6591C>T (p.Gly2197=) rs1453353800 0.00002
NM_173076.3(ABCA12):c.7209C>G (p.Ala2403=) rs746403011 0.00002
NM_173076.3(ABCA12):c.7240-6A>G rs374149360 0.00002
NM_173076.3(ABCA12):c.7344-16C>T rs779580419 0.00002
NM_173076.3(ABCA12):c.7344-7C>A rs371364269 0.00002
NM_173076.3(ABCA12):c.7473G>A (p.Lys2491=) rs543222287 0.00002
NM_173076.3(ABCA12):c.7742G>T (p.Gly2581Val) rs138260707 0.00002
NM_173076.3(ABCA12):c.5885-10C>T rs367971857 0.00001
NM_173076.3(ABCA12):c.5885-14G>C rs760739044 0.00001
NM_173076.3(ABCA12):c.5885-19G>T rs1484502066 0.00001
NM_173076.3(ABCA12):c.5910T>C (p.Tyr1970=) rs192684455 0.00001
NM_173076.3(ABCA12):c.5939+20A>G rs760860781 0.00001
NM_173076.3(ABCA12):c.5940-13T>C rs1373827062 0.00001
NM_173076.3(ABCA12):c.5973G>A (p.Leu1991=) rs752520702 0.00001
NM_173076.3(ABCA12):c.6012T>C (p.Phe2004=) rs1324777401 0.00001
NM_173076.3(ABCA12):c.6015C>G (p.Val2005=) rs761942940 0.00001
NM_173076.3(ABCA12):c.6060G>A (p.Gln2020=) rs770604844 0.00001
NM_173076.3(ABCA12):c.6111T>C (p.Tyr2037=) rs1394111582 0.00001
NM_173076.3(ABCA12):c.6117+13T>C rs760383903 0.00001
NM_173076.3(ABCA12):c.6117+14G>A rs199965439 0.00001
NM_173076.3(ABCA12):c.6118-11T>C rs747417909 0.00001
NM_173076.3(ABCA12):c.6150T>C (p.Ile2050=) rs1376941154 0.00001
NM_173076.3(ABCA12):c.6152G>A (p.Gly2051Asp) rs1178721123 0.00001
NM_173076.3(ABCA12):c.6156C>T (p.Ile2052=) rs767229674 0.00001
NM_173076.3(ABCA12):c.6172T>G (p.Leu2058Val) rs376465039 0.00001
NM_173076.3(ABCA12):c.6210A>G (p.Val2070=) rs779028702 0.00001
NM_173076.3(ABCA12):c.6219A>G (p.Leu2073=) rs755748351 0.00001
NM_173076.3(ABCA12):c.6234-8A>T rs1283223222 0.00001
NM_173076.3(ABCA12):c.6293C>A (p.Ala2098Asp) rs1291672671 0.00001
NM_173076.3(ABCA12):c.6390T>C (p.Asp2130=) rs1698905851 0.00001
NM_173076.3(ABCA12):c.6394-10C>T rs368688715 0.00001
NM_173076.3(ABCA12):c.6394-11T>C rs529019469 0.00001
NM_173076.3(ABCA12):c.6486A>G (p.Gln2162=) rs1243533288 0.00001
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) rs137853289 0.00001
NM_173076.3(ABCA12):c.6647+17C>T rs1235930183 0.00001
NM_173076.3(ABCA12):c.6681A>G (p.Val2227=) rs2469146928 0.00001
NM_173076.3(ABCA12):c.6720G>A (p.Glu2240=) rs767744158 0.00001
NM_173076.3(ABCA12):c.6861G>A (p.Gly2287=) rs1191213553 0.00001
NM_173076.3(ABCA12):c.6876T>C (p.Asn2292=) rs1280506321 0.00001
NM_173076.3(ABCA12):c.6962+15T>C rs1457467483 0.00001
NM_173076.3(ABCA12):c.6994T>C (p.Leu2332=) rs377269469 0.00001
NM_173076.3(ABCA12):c.7033C>T (p.Leu2345=) rs1698657471 0.00001
NM_173076.3(ABCA12):c.7077T>C (p.His2359=) rs1390791356 0.00001
NM_173076.3(ABCA12):c.7104+14T>C rs1341337716 0.00001
NM_173076.3(ABCA12):c.7105-23_7105-17dup rs762022735 0.00001
NM_173076.3(ABCA12):c.7107T>C (p.Thr2369=) rs1408244893 0.00001
NM_173076.3(ABCA12):c.7109T>C (p.Val2370Ala) rs752156383 0.00001
NM_173076.3(ABCA12):c.7126A>C (p.Arg2376=) rs752220062 0.00001
NM_173076.3(ABCA12):c.7176T>C (p.Tyr2392=) rs764302965 0.00001
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) rs764355087 0.00001
NM_173076.3(ABCA12):c.7248G>A (p.Pro2416=) rs763124500 0.00001
NM_173076.3(ABCA12):c.7248G>T (p.Pro2416=) rs763124500 0.00001
NM_173076.3(ABCA12):c.7266G>A (p.Pro2422=) rs759699877 0.00001
NM_173076.3(ABCA12):c.7269G>A (p.Lys2423=) rs1248260000 0.00001
NM_173076.3(ABCA12):c.7271C>T (p.Ser2424Leu) rs925844991 0.00001
NM_173076.3(ABCA12):c.7272G>A (p.Ser2424=) rs150309991 0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783 0.00001
NM_173076.3(ABCA12):c.7317A>G (p.Lys2439=) rs1299216744 0.00001
NM_173076.3(ABCA12):c.7323C>T (p.Ser2441=) rs767987074 0.00001
NM_173076.3(ABCA12):c.7343+12G>A rs558578913 0.00001
NM_173076.3(ABCA12):c.7436+17T>C rs765231909 0.00001
NM_173076.3(ABCA12):c.7437-7T>A rs756225842 0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) rs199503269 0.00001
NM_173076.3(ABCA12):c.7542+13G>A rs370013135 0.00001
NM_173076.3(ABCA12):c.7593A>C (p.Gly2531=) rs781283793 0.00001
NM_173076.3(ABCA12):c.7596C>T (p.Val2532=) rs372152172 0.00001
NM_173076.3(ABCA12):c.7668C>A (p.Thr2556=) rs928244078 0.00001
NM_173076.3(ABCA12):c.7680+8A>G rs368505174 0.00001
NM_173076.3(ABCA12):c.7749T>C (p.Thr2583=) rs1346178216 0.00001
NM_173076.3(ABCA12):c.5885-19_5885-17del rs755378988
NM_173076.3(ABCA12):c.5885-7C>T rs200049482
NM_173076.3(ABCA12):c.5939+13C>T rs2469171691
NM_173076.3(ABCA12):c.5939+1G>A rs758166174
NM_173076.3(ABCA12):c.5940-17_5940-16del rs1478052893
NM_173076.3(ABCA12):c.5940-18C>T rs2469169338
NM_173076.3(ABCA12):c.5940-6C>T rs2469169297
NM_173076.3(ABCA12):c.5951T>C (p.Leu1984Ser) rs2469169233
NM_173076.3(ABCA12):c.5963del (p.Ile1987_Leu1988insTer) rs2469169172
NM_173076.3(ABCA12):c.5979C>A (p.Ile1993=) rs73088469
NM_173076.3(ABCA12):c.5994T>C (p.Ser1998=) rs1414551355
NM_173076.3(ABCA12):c.6025G>A (p.Val2009Ile) rs751692199
NM_173076.3(ABCA12):c.6037C>T (p.Gln2013Ter) rs2469168673
NM_173076.3(ABCA12):c.6048C>A (p.Ala2016=) rs759171605
NM_173076.3(ABCA12):c.6052C>T (p.Gln2018Ter)
NM_173076.3(ABCA12):c.6079G>A (p.Val2027Met) rs781497255
NM_173076.3(ABCA12):c.6081G>C (p.Val2027=) rs751678145
NM_173076.3(ABCA12):c.6117+10T>A
NM_173076.3(ABCA12):c.6117+16C>T rs2469168172
NM_173076.3(ABCA12):c.6118-16T>C rs2469163960
NM_173076.3(ABCA12):c.6118-20T>C rs2469163973
NM_173076.3(ABCA12):c.6118-4A>G rs1418946889
NM_173076.3(ABCA12):c.6118-4A>T rs1418946889
NM_173076.3(ABCA12):c.6118-9T>C rs777887667
NM_173076.3(ABCA12):c.6132G>A (p.Val2044=) rs2469163857
NM_173076.3(ABCA12):c.6132G>T (p.Val2044=)
NM_173076.3(ABCA12):c.6167dup (p.Lys2057fs) rs1698959620
NM_173076.3(ABCA12):c.6171A>G (p.Lys2057=) rs2469163676
NM_173076.3(ABCA12):c.6172T>C (p.Leu2058=) rs376465039
NM_173076.3(ABCA12):c.6189T>C (p.Ser2063=) rs2469163605
NM_173076.3(ABCA12):c.6201A>C (p.Leu2067=) rs1698958692
NM_173076.3(ABCA12):c.6216C>T (p.Leu2072=) rs755444549
NM_173076.3(ABCA12):c.6222T>G (p.Leu2074=) rs933653609
NM_173076.3(ABCA12):c.6234-10dup rs1434860476
NM_173076.3(ABCA12):c.6234-19T>A rs2469159646
NM_173076.3(ABCA12):c.6234-21_6234-20del
NM_173076.3(ABCA12):c.6234-6del rs2469159613
NM_173076.3(ABCA12):c.6249C>G (p.Ser2083=) rs2469159549
NM_173076.3(ABCA12):c.6287del (p.Gly2096fs) rs2469159422
NM_173076.3(ABCA12):c.6300C>T (p.Ile2100=) rs2469159345
NM_173076.3(ABCA12):c.6330C>A (p.Gly2110=) rs2469159207
NM_173076.3(ABCA12):c.6330C>T (p.Gly2110=) rs2469159207
NM_173076.3(ABCA12):c.6336T>C (p.Asn2112=) rs2469159174
NM_173076.3(ABCA12):c.6357G>C (p.Val2119=) rs1393258466
NM_173076.3(ABCA12):c.6393+12T>A rs2469158932
NM_173076.3(ABCA12):c.6393+7T>A rs2469158951
NM_173076.3(ABCA12):c.6393+9C>T
NM_173076.3(ABCA12):c.6394-10C>G rs368688715
NM_173076.3(ABCA12):c.6394-12C>A rs2469156244
NM_173076.3(ABCA12):c.6394-14_6394-11dup rs2469156237
NM_173076.3(ABCA12):c.6394-2A>G rs990205047
NM_173076.3(ABCA12):c.6423G>A (p.Lys2141=) rs1031078685
NM_173076.3(ABCA12):c.6426C>A (p.Arg2142=) rs1698865661
NM_173076.3(ABCA12):c.6429T>C (p.Ile2143=) rs2469156050
NM_173076.3(ABCA12):c.6447A>T (p.Gln2149His) rs147074166
NM_173076.3(ABCA12):c.6453T>C (p.Cys2151=) rs2469155969
NM_173076.3(ABCA12):c.6471T>A (p.Ile2157=) rs763139959
NM_173076.3(ABCA12):c.6522G>A (p.Val2174=) rs1447691250
NM_173076.3(ABCA12):c.6601T>A (p.Phe2201Ile) rs759737171
NM_173076.3(ABCA12):c.6609G>A (p.Leu2203=) rs2469155358
NM_173076.3(ABCA12):c.6610C>A (p.Arg2204=) rs137853289
NM_173076.3(ABCA12):c.6644_6645del (p.Leu2215fs) rs2469155156
NM_173076.3(ABCA12):c.6647+11T>C rs1698855554
NM_173076.3(ABCA12):c.6647+13A>G rs2469155093
NM_173076.3(ABCA12):c.6648-12G>A rs1205579707
NM_173076.3(ABCA12):c.6648-15T>C rs1698751601
NM_173076.3(ABCA12):c.6648-20dup rs2469147101
NM_173076.3(ABCA12):c.6658A>C (p.Arg2220=) rs768951594
NM_173076.3(ABCA12):c.6684G>A (p.Arg2228=) rs1698750255
NM_173076.3(ABCA12):c.6696T>C (p.Asp2232=) rs758083838
NM_173076.3(ABCA12):c.6708T>C (p.Asp2236=) rs2469146799
NM_173076.3(ABCA12):c.6732T>G (p.Val2244=) rs2469146722
NM_173076.3(ABCA12):c.6744A>C (p.Ala2248=) rs1698747689
NM_173076.3(ABCA12):c.6756C>T (p.Asp2252=) rs2469146636
NM_173076.3(ABCA12):c.6759G>A (p.Leu2253=) rs775847850
NM_173076.3(ABCA12):c.6792A>G (p.Gln2264=) rs1167962654
NM_173076.3(ABCA12):c.6816T>C (p.Ala2272=) rs2469146429
NM_173076.3(ABCA12):c.6825C>T (p.Asn2275=) rs2469146396
NM_173076.3(ABCA12):c.6852+12T>G rs2469146268
NM_173076.3(ABCA12):c.6852+2T>G rs2469146316
NM_173076.3(ABCA12):c.6852+9C>G rs2469146279
NM_173076.3(ABCA12):c.6853-14C>T rs2469139898
NM_173076.3(ABCA12):c.6853-15del rs2469139903
NM_173076.3(ABCA12):c.6853-15dup rs2469139903
NM_173076.3(ABCA12):c.6853-20C>A rs1313269937
NM_173076.3(ABCA12):c.6853-6A>C rs2469139857
NM_173076.3(ABCA12):c.6853-8C>T rs1304005259
NM_173076.3(ABCA12):c.6858del (p.Phe2286fs) rs751949857
NM_173076.3(ABCA12):c.6861G>T (p.Gly2287=) rs1191213553
NM_173076.3(ABCA12):c.6960C>A (p.Thr2320=) rs1021345094
NM_173076.3(ABCA12):c.6960C>T (p.Thr2320=) rs1021345094
NM_173076.3(ABCA12):c.6962+16G>C rs2469139371
NM_173076.3(ABCA12):c.6962+1G>T rs767101129
NM_173076.3(ABCA12):c.6962+2T>C rs2469139427
NM_173076.3(ABCA12):c.6962+2del rs2469139434
NM_173076.3(ABCA12):c.6963-11T>C rs2469138367
NM_173076.3(ABCA12):c.6963-22_6963-19dup rs750715284
NM_173076.3(ABCA12):c.6963-2A>G rs2469138327
NM_173076.3(ABCA12):c.6969G>A (p.Leu2323=)
NM_173076.3(ABCA12):c.7032C>T (p.Asp2344=) rs2469138031
NM_173076.3(ABCA12):c.7065T>C (p.Tyr2355=) rs2469137858
NM_173076.3(ABCA12):c.7070G>T (p.Arg2357Met) rs749848420
NM_173076.3(ABCA12):c.7104+19A>G rs2469137609
NM_173076.3(ABCA12):c.7104+19A>T rs2469137609
NM_173076.3(ABCA12):c.7104+8C>G rs765121801
NM_173076.3(ABCA12):c.7105-3_7105-2delinsTT rs2469134106
NM_173076.3(ABCA12):c.7107T>G (p.Thr2369=)
NM_173076.3(ABCA12):c.7113T>C (p.His2371=) rs754933913
NM_173076.3(ABCA12):c.7143C>T (p.Pro2381=) rs2469133923
NM_173076.3(ABCA12):c.7149G>A (p.Lys2383=) rs2469133903
NM_173076.3(ABCA12):c.7182A>T (p.Thr2394=) rs2469133764
NM_173076.3(ABCA12):c.7224T>G (p.Pro2408=) rs1698617387
NM_173076.3(ABCA12):c.7236G>T (p.Leu2412=) rs2469133552
NM_173076.3(ABCA12):c.7239+14T>C
NM_173076.3(ABCA12):c.7240-17_7240-15del rs574161259
NM_173076.3(ABCA12):c.7240-19G>T rs2469126255
NM_173076.3(ABCA12):c.7240-23_7240-20dup rs534247093
NM_173076.3(ABCA12):c.7240-4T>G rs2469126187
NM_173076.3(ABCA12):c.7240-9T>A rs1187348996
NM_173076.3(ABCA12):c.7255G>A (p.Gly2419Ser) rs2469126087
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) rs761068277
NM_173076.3(ABCA12):c.7296T>C (p.Ile2432=) rs2469125863
NM_173076.3(ABCA12):c.7323del (p.Val2442fs) rs387906284
NM_173076.3(ABCA12):c.7343+15A>C rs780915400
NM_173076.3(ABCA12):c.7343+16T>A
NM_173076.3(ABCA12):c.7343+17C>A
NM_173076.3(ABCA12):c.7343+19_7343+25del
NM_173076.3(ABCA12):c.7375T>C (p.Leu2459=) rs1574926336
NM_173076.3(ABCA12):c.7392T>C (p.Asn2464=) rs2469118868
NM_173076.3(ABCA12):c.7395A>G (p.Gly2465=) rs2469118863
NM_173076.3(ABCA12):c.7405T>C (p.Cys2469Arg) rs2105917488
NM_173076.3(ABCA12):c.7436+14G>A rs2469118679
NM_173076.3(ABCA12):c.7436+14G>C rs2469118679
NM_173076.3(ABCA12):c.7436+14G>T rs2469118679
NM_173076.3(ABCA12):c.7436+9C>G rs2469118695
NM_173076.3(ABCA12):c.7437-8C>G rs1021008360
NM_173076.3(ABCA12):c.7443A>C (p.Gly2481=) rs149660639
NM_173076.3(ABCA12):c.7443A>T (p.Gly2481=) rs149660639
NM_173076.3(ABCA12):c.7455T>C (p.Thr2485=) rs1417208185
NM_173076.3(ABCA12):c.7542+12T>C
NM_173076.3(ABCA12):c.7542+16T>G rs1194004728
NM_173076.3(ABCA12):c.7542+19G>T rs575800965
NM_173076.3(ABCA12):c.7542+1G>A rs2469102307
NM_173076.3(ABCA12):c.7542+20T>A
NM_173076.3(ABCA12):c.7542+20T>C rs1256351586
NM_173076.3(ABCA12):c.7542+7G>A rs2469102293
NM_173076.3(ABCA12):c.7543-15C>G rs772160019
NM_173076.3(ABCA12):c.7543-17del rs1202129544
NM_173076.3(ABCA12):c.7543-19T>C rs2469093836
NM_173076.3(ABCA12):c.7543-20T>A rs2469093841
NM_173076.3(ABCA12):c.7563A>G (p.Leu2521=) rs761681332
NM_173076.3(ABCA12):c.7572T>C (p.His2524=) rs1281321207
NM_173076.3(ABCA12):c.7598C>A (p.Ala2533Glu) rs2105907205
NM_173076.3(ABCA12):c.7605T>A (p.Ile2535=) rs2469093540
NM_173076.3(ABCA12):c.7650T>C (p.Asn2550=) rs2469093438
NM_173076.3(ABCA12):c.7659G>A (p.Val2553=) rs754571047
NM_173076.3(ABCA12):c.7659G>C (p.Val2553=) rs754571047
NM_173076.3(ABCA12):c.7662T>C (p.Ser2554=) rs2469093409
NM_173076.3(ABCA12):c.7680+13C>A rs750005163
NM_173076.3(ABCA12):c.7680+13C>G rs750005163
NM_173076.3(ABCA12):c.7680+14C>T rs1314762325
NM_173076.3(ABCA12):c.7680+16C>T rs368174220
NM_173076.3(ABCA12):c.7681-4T>C rs2469089258
NM_173076.3(ABCA12):c.7681-5dup rs1429564417
NM_173076.3(ABCA12):c.7750A>C (p.Ile2584Leu) rs371138932
NM_173076.3(ABCA12):c.7750A>G (p.Ile2584Val) rs371138932
NM_173076.3(ABCA12):c.7788A>G (p.Ter2596=) rs2469088779

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