ClinVar Miner

List of variants in gene ACAN studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.5567G>A (p.Ser1856Asn) rs200762388 0.00098
NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln) rs184913582 0.00026
NM_001369268.1(ACAN):c.1948G>A (p.Val650Met) rs201414869 0.00015
NM_001369268.1(ACAN):c.5726C>G (p.Ser1909Cys)
NM_001369268.1(ACAN):c.5756C>T (p.Ser1919Leu)

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