ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 4A by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter) rs114863111 0.00001
NM_173076.3(ABCA12):c.743del (p.Arg248fs)

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