ClinVar Miner

List of variants in gene ABCA12, SNHG31 studied for autosomal recessive congenital ichthyosis 4A

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 19
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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.*26G>A rs17426207 0.39585
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys) rs199846944 0.00019
NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe) rs770806176 0.00004
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) rs137853289 0.00001
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) rs764355087 0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783 0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) rs199503269 0.00001
NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro) rs1559098040 0.00001
NM_173076.3(ABCA12):c.5939+4A>G rs1131692156
NM_173076.3(ABCA12):c.6234-1G>C rs1553520468
NM_173076.3(ABCA12):c.6463G>T (p.Gly2155Cys)
NM_173076.3(ABCA12):c.7104+5G>A
NM_173076.3(ABCA12):c.7240-1G>T
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) rs761068277
NM_173076.3(ABCA12):c.7323del (p.Val2442fs) rs387906284
NM_173076.3(ABCA12):c.7344-1G>C rs2105917562

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