ClinVar Miner

List of variants in gene ST14 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_021978.4(ST14):c.1113+15G>A rs597661
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932

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