ClinVar Miner

List of variants in gene VCAN reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.1883G>A (p.Ser628Asn) rs748526948 0.00002
NM_004385.5(VCAN):c.9218T>C (p.Ile3073Thr) rs200780028 0.00002
NM_004385.5(VCAN):c.4805C>A (p.Thr1602Asn) rs1386946213 0.00001
NM_004385.5(VCAN):c.5705C>T (p.Thr1902Ile) rs1746831730 0.00001
NM_004385.5(VCAN):c.9443C>A (p.Thr3148Lys) rs374872107 0.00001
NM_004385.5(VCAN):c.9631G>A (p.Glu3211Lys) rs1417998756 0.00001
NM_004385.5(VCAN):c.10063+1G>A
NM_004385.5(VCAN):c.1024G>T (p.Asp342Tyr)
NM_004385.5(VCAN):c.1501T>C (p.Ser501Pro) rs1249593800
NM_004385.5(VCAN):c.2566C>G (p.Leu856Val) rs1746062212
NM_004385.5(VCAN):c.261A>T (p.Gln87His)
NM_004385.5(VCAN):c.3553T>C (p.Phe1185Leu) rs2112412886
NM_004385.5(VCAN):c.370G>C (p.Asp124His) rs2478964843
NM_004385.5(VCAN):c.4146C>A (p.Asp1382Glu) rs2112439332
NM_004385.5(VCAN):c.46A>G (p.Ile16Val) rs573332559
NM_004385.5(VCAN):c.4874G>A (p.Arg1625Lys) rs1171808787
NM_004385.5(VCAN):c.5666C>T (p.Thr1889Ile) rs780568053
NM_004385.5(VCAN):c.5737G>A (p.Gly1913Arg)
NM_004385.5(VCAN):c.652T>A (p.Tyr218Asn)
NM_004385.5(VCAN):c.6854C>A (p.Pro2285His) rs2479115438
NM_004385.5(VCAN):c.7840G>T (p.Asp2614Tyr)
NM_004385.5(VCAN):c.8386C>G (p.Pro2796Ala)
NM_004385.5(VCAN):c.8676A>C (p.Leu2892Phe) rs2112450349
NM_004385.5(VCAN):c.9134C>T (p.Thr3045Ile) rs73148633

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