ClinVar Miner

List of variants in gene ABCA12 studied for autosomal recessive congenital ichthyosis 4A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.4163+20T>C rs7559069 0.99890
NM_173076.3(ABCA12):c.1657+72A>G rs1403835 0.99785
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_173076.3(ABCA12):c.2864-105C>T rs2049361 0.99567
NM_173076.3(ABCA12):c.163+89T>A rs2948978 0.96626
NM_173076.3(ABCA12):c.3294+36C>T rs1980844 0.73434
NM_173076.3(ABCA12):c.4383-70G>T rs4610055 0.71320
NM_173076.3(ABCA12):c.164-30C>G rs1523721 0.63341
NM_173076.3(ABCA12):c.5778+29T>C rs4673925 0.51362
NM_173076.3(ABCA12):c.5381+95G>T rs17493319 0.49128
NM_173076.3(ABCA12):c.3295-25C>T rs4533467 0.35976
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.3726G>A (p.Pro1242=) rs71428357 0.07520
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr) rs113112835 0.00014
NM_173076.3(ABCA12):c.4415G>A (p.Arg1472His) rs377470191 0.00009
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.1300C>T (p.Arg434Ter) rs757520757 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_173076.3(ABCA12):c.693+1G>A rs957637813 0.00003
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_173076.3(ABCA12):c.2637C>T (p.Ser879=) rs760070967 0.00001
NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter) rs114863111 0.00001
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs)
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) rs201542666
NM_173076.3(ABCA12):c.1583del (p.Asn528fs)
NM_173076.3(ABCA12):c.1657+1G>T rs758568142
NM_173076.3(ABCA12):c.1657+2T>G
NM_173076.3(ABCA12):c.167A>G (p.Tyr56Cys)
NM_173076.3(ABCA12):c.1836dup (p.Lys613fs)
NM_173076.3(ABCA12):c.1918dup (p.Leu640fs) rs1574984736
NM_173076.3(ABCA12):c.1967C>T (p.Pro656Leu)
NM_173076.3(ABCA12):c.2140C>T (p.Arg714Ter) rs763481375
NM_173076.3(ABCA12):c.2592+2dup
NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs) rs2105992974
NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn) rs1559141294
NM_173076.3(ABCA12):c.3306G>A (p.Met1102Ile)
NM_173076.3(ABCA12):c.3416T>C (p.Leu1139Pro) rs2105976738
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) rs1559134341
NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) rs267606622
NM_173076.3(ABCA12):c.3634T>A (p.Ser1212Thr)
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) rs80181772
NM_173076.3(ABCA12):c.3666C>A (p.Tyr1222Ter)
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) rs1452228678
NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu) rs28940268
NM_173076.3(ABCA12):c.4151A>G (p.Lys1384Arg)
NM_173076.3(ABCA12):c.4381del (p.Arg1461fs)
NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys) rs1266760446
NM_173076.3(ABCA12):c.4543C>T (p.Arg1515Ter)
NM_173076.3(ABCA12):c.4601C>T (p.Thr1534Met)
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) rs28940271
NM_173076.3(ABCA12):c.4676G>T (p.Gly1559Val) rs1457513156
NM_173076.3(ABCA12):c.4798C>T (p.Gln1600Ter)
NM_173076.3(ABCA12):c.4977+6C>T
NM_173076.3(ABCA12):c.4977G>A (p.Glu1659=)
NM_173076.3(ABCA12):c.5001_5010del (p.Ser1668fs)
NM_173076.3(ABCA12):c.5012del (p.Asn1671fs) rs387906285
NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)
NM_173076.3(ABCA12):c.5121_5124del (p.Asp1707fs)
NM_173076.3(ABCA12):c.517C>T (p.Gln173Ter)
NM_173076.3(ABCA12):c.5469_5472del
NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=) rs1459045233
NM_173076.3(ABCA12):c.5743dup (p.Ile1915fs) rs1559120651
NM_173076.3(ABCA12):c.5848C>T (p.Arg1950Ter)
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) rs769753487
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter) rs1187032187
NM_173076.3(ABCA12):c.693+1G>T
NM_173076.3(ABCA12):c.743del (p.Arg248fs)
NM_173076.3(ABCA12):c.790C>T (p.Gln264Ter)
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_173076.3(ABCA12):c.945del (p.Val316fs)
NM_173076.3(ABCA12):c.94T>C (p.Trp32Arg)
NM_173076.3(ABCA12):c.985+1G>A

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