ClinVar Miner

List of variants in gene ST14 reported as benign for autosomal recessive congenital ichthyosis 11

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021978.4(ST14):c.1015+40A>G rs610005 0.89653
NM_021978.4(ST14):c.1223+29G>A rs858713 0.84758
NM_021978.4(ST14):c.1113+15G>A rs597661 0.79383
NM_021978.4(ST14):c.875+23A>G rs858704 0.78708
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106 0.59526
NM_021978.4(ST14):c.1684+38C>T rs11221995 0.41747

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