ClinVar Miner

List of variants in gene CHST14 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_130468.3(CHST14):c.[403C>G;410T>A]
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.4(CHST14):c.264del (p.Lys89fs)
NM_130468.4(CHST14):c.315del (p.Gln106fs)
NM_130468.4(CHST14):c.453dup (p.Cys152fs) rs1555410747
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)
NM_130468.4(CHST14):c.755_851del (p.Ser252fs) rs1555410768
NM_130468.4(CHST14):c.783del (p.Glu262fs)
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter) rs1595869602
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs) rs1555410785

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