ClinVar Miner

List of variants in gene VCAN reported as uncertain significance for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.854C>T (p.Ala285Val) rs144939909 0.00066
NM_004385.5(VCAN):c.2656A>G (p.Thr886Ala) rs138220992 0.00023
NM_004385.5(VCAN):c.9274C>T (p.Arg3092Cys) rs370120896 0.00001
NM_004385.5(VCAN):c.110C>T (p.Ser37Phe)
NM_004385.5(VCAN):c.1960G>C (p.Glu654Gln) rs202008807
NM_004385.5(VCAN):c.3227C>G (p.Ser1076Cys) rs1746099987
NM_004385.5(VCAN):c.4170AGA[4] (p.Glu1395del) rs752532806
NM_004385.5(VCAN):c.5086C>G (p.Pro1696Ala)
NM_004385.5(VCAN):c.5666C>T (p.Thr1889Ile) rs780568053
NM_004385.5(VCAN):c.6155A>G (p.Asn2052Ser)
NM_004385.5(VCAN):c.703C>T (p.Pro235Ser)
NM_004385.5(VCAN):c.8033G>C (p.Ser2678Thr)
NM_004385.5(VCAN):c.8366A>G (p.Asp2789Gly)
NM_004385.5(VCAN):c.8453C>T (p.Ala2818Val)
NM_004385.5(VCAN):c.9422C>A (p.Thr3141Asn)

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