ClinVar Miner

List of variants in gene CHST14 reported as pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.3(CHST14):c.453dup (p.Cys152fs) rs1555410747
NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs)
NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) rs121908257
NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) rs121908258
NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs) rs1555410785
NM_130468.3(CHST14):c.[403C>G;410T>A]

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