ClinVar Miner

List of variants in gene CHSY1 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
CHSY1, 30-BP DEL, NT55
NM_014918.5(CHSY1):c.14del (p.Gly5fs) rs1567112402
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) rs387906985
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) rs387906984
NM_014918.5(CHSY1):c.321-3C>G rs1567106459
NM_014918.5(CHSY1):c.96del (p.Glu33fs) rs1596459125

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