ClinVar Miner

List of variants in gene combination ABCA12, SNHG31 reported as benign 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: 4
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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

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