ClinVar Miner

List of variants in gene combination ABCA12, SNHG31 reported as uncertain significance for Congenital ichthyosis of skin

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.6208G>A (p.Val2070Ile) rs145980660 0.00171
NM_173076.3(ABCA12):c.*664C>G rs191323693 0.00156
NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile) rs146834697 0.00143
NM_173076.3(ABCA12):c.*844C>T rs143075508 0.00137
NM_173076.3(ABCA12):c.7468T>C (p.Leu2490=) rs149561952 0.00130
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val) rs150196545 0.00105
NM_173076.3(ABCA12):c.7597G>A (p.Ala2533Thr) rs140033094 0.00054
NM_173076.3(ABCA12):c.*552G>A rs183185732 0.00043
NM_173076.3(ABCA12):c.6704A>C (p.Glu2235Ala) rs138504099 0.00043
NM_173076.3(ABCA12):c.6962+5G>A rs201877187 0.00033
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.7102G>A (p.Glu2368Lys) rs376611510 0.00015
NM_173076.3(ABCA12):c.*365G>C rs750719136 0.00012
NM_173076.3(ABCA12):c.*720G>C rs180771753 0.00009
NM_173076.3(ABCA12):c.*396C>T rs886055603 0.00008
NM_173076.3(ABCA12):c.*465G>A rs996140169 0.00007
NM_173076.3(ABCA12):c.*344T>C rs1174723426 0.00006
NM_173076.3(ABCA12):c.6462C>T (p.Tyr2154=) rs200584463 0.00005
NM_173076.3(ABCA12):c.6102C>T (p.Asn2034=) rs139124977 0.00004
NM_173076.3(ABCA12):c.6668A>G (p.Asn2223Ser) rs368437712 0.00004
NM_173076.3(ABCA12):c.7389G>A (p.Val2463=) rs202031511 0.00004
NM_173076.3(ABCA12):c.7265C>T (p.Pro2422Leu) rs765289715 0.00003
NM_173076.3(ABCA12):c.6484C>A (p.Gln2162Lys) rs775733609 0.00002
NM_173076.3(ABCA12):c.*378G>A rs886055604 0.00001
NM_173076.3(ABCA12):c.*574C>T rs530493676 0.00001
NM_173076.3(ABCA12):c.6463G>A (p.Gly2155Ser) rs750214847 0.00001
NM_173076.3(ABCA12):c.7496C>A (p.Thr2499Asn) rs747030042 0.00001
NM_173076.3(ABCA12):c.7596C>T (p.Val2532=) rs372152172 0.00001
NM_173076.3(ABCA12):c.*275C>A rs1046805512
NM_173076.3(ABCA12):c.*378G>C rs886055604
NM_173076.3(ABCA12):c.*713T>G rs1559096471
NM_173076.3(ABCA12):c.*724G>A rs1698069869
NM_173076.3(ABCA12):c.*732G>A rs147463711
NM_173076.3(ABCA12):c.*810A>G rs886055602
NM_173076.3(ABCA12):c.*908G>C rs946287981
NM_173076.3(ABCA12):c.6204C>T (p.Gly2068=) rs777822338
NM_173076.3(ABCA12):c.6240A>C (p.Ala2080=) rs947649130
NM_173076.3(ABCA12):c.6270G>T (p.Gly2090=) rs1698911004
NM_173076.3(ABCA12):c.6306C>A (p.Tyr2102Ter) rs10498027
NM_173076.3(ABCA12):c.6356T>G (p.Val2119Gly) rs886055606
NM_173076.3(ABCA12):c.6360A>G (p.Val2120=) rs886055605
NM_173076.3(ABCA12):c.6621C>T (p.Ile2207=) rs1698856865
NM_173076.3(ABCA12):c.6726_6732del (p.Glu2245fs) rs1559109911
NM_173076.3(ABCA12):c.7436+15C>T rs577863211

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