ClinVar Miner

List of variants in gene VCAN reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) rs2548541 0.67722
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg) rs309559 0.50554
NM_004385.5(VCAN):c.5808T>C (p.Gly1936=) rs309557 0.50487
NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) rs160279 0.50384
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His) rs188703 0.38473
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) rs3096171 0.01237
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) rs2652098 0.00988
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val) rs111512368 0.00955
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_004385.5(VCAN):c.1864T>C (p.Trp622Arg) rs147152203 0.00142
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) rs146560021 0.00071
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00032
NM_004385.5(VCAN):c.1895C>T (p.Thr632Met) rs143729093 0.00030
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214 0.00016
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val) rs147798761 0.00015
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) rs144610900 0.00014
NM_004385.5(VCAN):c.2168G>A (p.Gly723Glu) rs149661891 0.00010
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val) rs183984308 0.00007
NM_004385.5(VCAN):c.1707C>G (p.Ser569Arg) rs766131650 0.00006
NM_004385.5(VCAN):c.2506A>G (p.Met836Val) rs568469504 0.00001
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.2674G>A (p.Ala892Thr) rs1314489533
NM_004385.5(VCAN):c.2949G>A (p.Trp983Ter) rs184777650
NM_004385.5(VCAN):c.6844A>G (p.Thr2282Ala) rs886044566
NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr) rs160278
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.6934G>A (p.Gly2312Arg) rs794727913
NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr) rs160277
NM_004385.5(VCAN):c.8859A>C (p.Thr2953=) rs794727914
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380

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