ClinVar Miner

List of variants in gene SULT2B1 reported as pathogenic for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
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_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) rs1114167424
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426

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