ClinVar Miner

List of variants in gene VCAN studied for Inborn genetic diseases

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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.7568G>A (p.Arg2523His) rs139938317 0.00080
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) rs146560021 0.00071
NM_004385.5(VCAN):c.6482A>G (p.Lys2161Arg) rs149408243 0.00069
NM_004385.5(VCAN):c.4381T>A (p.Leu1461Met) rs139141519 0.00067
NM_004385.5(VCAN):c.5410G>A (p.Ala1804Thr) rs141680853 0.00067
NM_004385.5(VCAN):c.854C>T (p.Ala285Val) rs144939909 0.00066
NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu) rs140606678 0.00044
NM_004385.5(VCAN):c.5947A>T (p.Ile1983Leu) rs145891745 0.00037
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00032
NM_004385.5(VCAN):c.4643C>T (p.Ser1548Leu) rs61754534 0.00030
NM_004385.5(VCAN):c.6124G>A (p.Asp2042Asn) rs149515874 0.00029
NM_004385.5(VCAN):c.8873C>T (p.Thr2958Ile) rs148263424 0.00028
NM_004385.5(VCAN):c.2656A>G (p.Thr886Ala) rs138220992 0.00023
NM_004385.5(VCAN):c.5716A>G (p.Ile1906Val) rs200520885 0.00018
NM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu) rs201255257 0.00016
NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys) rs145029761 0.00015
NM_004385.5(VCAN):c.6127G>A (p.Glu2043Lys) rs138937534 0.00015
NM_004385.5(VCAN):c.1526C>G (p.Pro509Arg) rs150340554 0.00014
NM_004385.5(VCAN):c.157C>T (p.Pro53Ser) rs201466502 0.00014
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) rs144610900 0.00014
NM_004385.5(VCAN):c.1396G>A (p.Val466Ile) rs147551428 0.00012
NM_004385.5(VCAN):c.7967C>T (p.Thr2656Ile) rs150166604 0.00012
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe) rs141725839 0.00011
NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys) rs188853533 0.00009
NM_004385.5(VCAN):c.5527G>A (p.Asp1843Asn) rs140580494 0.00009
NM_004385.5(VCAN):c.1595A>C (p.Glu532Ala) rs369333149 0.00007
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg) rs150395515 0.00006
NM_004385.5(VCAN):c.2879C>T (p.Thr960Ile) rs147544404 0.00006
NM_004385.5(VCAN):c.3280C>G (p.Pro1094Ala) rs140933632 0.00006
NM_004385.5(VCAN):c.4291C>T (p.Arg1431Cys) rs778762106 0.00006
NM_004385.5(VCAN):c.1846G>C (p.Gly616Arg) rs200944978 0.00005
NM_004385.5(VCAN):c.5732G>A (p.Arg1911Gln) rs149195788 0.00005
NM_004385.5(VCAN):c.7177G>A (p.Glu2393Lys) rs138857370 0.00005
NM_004385.5(VCAN):c.92C>T (p.Pro31Leu) rs776898982 0.00005
NM_004385.5(VCAN):c.133C>T (p.His45Tyr) rs371177155 0.00004
NM_004385.5(VCAN):c.3031C>T (p.Arg1011Cys) rs552006796 0.00004
NM_004385.5(VCAN):c.4376C>T (p.Thr1459Met) rs747981537 0.00004
NM_004385.5(VCAN):c.4901C>A (p.Ser1634Tyr) rs765791345 0.00004
NM_004385.5(VCAN):c.7420G>A (p.Ala2474Thr) rs756069926 0.00004
NM_004385.5(VCAN):c.7552G>A (p.Gly2518Ser) rs371161146 0.00004
NM_004385.5(VCAN):c.7868A>G (p.Tyr2623Cys) rs141356119 0.00004
NM_004385.5(VCAN):c.9619A>G (p.Ile3207Val) rs763005838 0.00004
NM_004385.5(VCAN):c.386G>A (p.Arg129His) rs370476323 0.00003
NM_004385.5(VCAN):c.425C>T (p.Thr142Met) rs1243361203 0.00003
NM_004385.5(VCAN):c.5147C>G (p.Ser1716Cys) rs754070094 0.00003
NM_004385.5(VCAN):c.9774C>A (p.Phe3258Leu) rs377678558 0.00003
NM_004385.5(VCAN):c.187C>T (p.Arg63Cys) rs977327386 0.00002
NM_004385.5(VCAN):c.3682G>A (p.Ala1228Thr) rs772576325 0.00002
NM_004385.5(VCAN):c.4186T>A (p.Cys1396Ser) rs754335466 0.00002
NM_004385.5(VCAN):c.4982A>G (p.Gln1661Arg) rs781684060 0.00002
NM_004385.5(VCAN):c.8530C>G (p.Pro2844Ala) rs879049343 0.00002
NM_004385.5(VCAN):c.959T>G (p.Leu320Arg) rs759677939 0.00002
NM_004385.5(VCAN):c.1262C>G (p.Thr421Ser) rs781015648 0.00001
NM_004385.5(VCAN):c.2506A>G (p.Met836Val) rs568469504 0.00001
NM_004385.5(VCAN):c.2876G>A (p.Ser959Asn) rs369644658 0.00001
NM_004385.5(VCAN):c.3023A>C (p.Asp1008Ala) rs1273423282 0.00001
NM_004385.5(VCAN):c.3248G>A (p.Gly1083Asp) rs764506909 0.00001
NM_004385.5(VCAN):c.5414A>G (p.Gln1805Arg) rs756087731 0.00001
NM_004385.5(VCAN):c.6269A>G (p.Gln2090Arg) rs767918859 0.00001
NM_004385.5(VCAN):c.10157G>A (p.Arg3386His) rs370521277
NM_004385.5(VCAN):c.1270C>T (p.Pro424Ser)
NM_004385.5(VCAN):c.127C>T (p.Pro43Ser)
NM_004385.5(VCAN):c.1291A>G (p.Lys431Glu)
NM_004385.5(VCAN):c.1694G>A (p.Gly565Glu)
NM_004385.5(VCAN):c.179A>C (p.Glu60Ala)
NM_004385.5(VCAN):c.1924A>G (p.Thr642Ala)
NM_004385.5(VCAN):c.1976C>A (p.Ser659Tyr)
NM_004385.5(VCAN):c.2134T>C (p.Phe712Leu)
NM_004385.5(VCAN):c.2201T>G (p.Ile734Ser)
NM_004385.5(VCAN):c.2413T>C (p.Trp805Arg)
NM_004385.5(VCAN):c.2432C>A (p.Thr811Lys)
NM_004385.5(VCAN):c.2861T>A (p.Phe954Tyr) rs913145099
NM_004385.5(VCAN):c.2918T>C (p.Ile973Thr)
NM_004385.5(VCAN):c.3082G>C (p.Glu1028Gln)
NM_004385.5(VCAN):c.3143C>T (p.Ala1048Val)
NM_004385.5(VCAN):c.3235G>A (p.Glu1079Lys)
NM_004385.5(VCAN):c.3446G>A (p.Gly1149Glu)
NM_004385.5(VCAN):c.3634A>G (p.Ser1212Gly)
NM_004385.5(VCAN):c.3650T>C (p.Leu1217Pro)
NM_004385.5(VCAN):c.3767C>G (p.Ser1256Cys)
NM_004385.5(VCAN):c.4004-2A>G rs80356555
NM_004385.5(VCAN):c.4055A>T (p.Lys1352Ile)
NM_004385.5(VCAN):c.4127C>G (p.Pro1376Arg) rs1746745482
NM_004385.5(VCAN):c.4132A>G (p.Ile1378Val)
NM_004385.5(VCAN):c.4238G>A (p.Gly1413Glu) rs145974479
NM_004385.5(VCAN):c.4534A>T (p.Ser1512Cys)
NM_004385.5(VCAN):c.4616C>G (p.Pro1539Arg)
NM_004385.5(VCAN):c.4619T>C (p.Val1540Ala)
NM_004385.5(VCAN):c.4954A>G (p.Met1652Val)
NM_004385.5(VCAN):c.5137G>C (p.Glu1713Gln)
NM_004385.5(VCAN):c.5234A>G (p.Gln1745Arg)
NM_004385.5(VCAN):c.5359A>G (p.Thr1787Ala)
NM_004385.5(VCAN):c.5371C>A (p.Pro1791Thr)
NM_004385.5(VCAN):c.5374G>A (p.Val1792Ile)
NM_004385.5(VCAN):c.5542A>G (p.Thr1848Ala)
NM_004385.5(VCAN):c.5603G>A (p.Gly1868Asp)
NM_004385.5(VCAN):c.5636C>T (p.Ser1879Phe)
NM_004385.5(VCAN):c.5809G>A (p.Asp1937Asn) rs756870122
NM_004385.5(VCAN):c.6232G>A (p.Val2078Ile)
NM_004385.5(VCAN):c.6238G>T (p.Val2080Phe) rs764734647
NM_004385.5(VCAN):c.6366A>T (p.Glu2122Asp)
NM_004385.5(VCAN):c.6463T>A (p.Tyr2155Asn)
NM_004385.5(VCAN):c.6872A>T (p.Glu2291Val)
NM_004385.5(VCAN):c.707A>G (p.Gln236Arg)
NM_004385.5(VCAN):c.7337C>T (p.Ala2446Val) rs1561257553
NM_004385.5(VCAN):c.7367G>A (p.Ser2456Asn)
NM_004385.5(VCAN):c.7427C>G (p.Ala2476Gly)
NM_004385.5(VCAN):c.7982G>A (p.Ser2661Asn)
NM_004385.5(VCAN):c.8052C>G (p.Asp2684Glu) rs184452501
NM_004385.5(VCAN):c.806A>C (p.Glu269Ala)
NM_004385.5(VCAN):c.8347G>A (p.Ala2783Thr)
NM_004385.5(VCAN):c.8519A>G (p.His2840Arg)
NM_004385.5(VCAN):c.8542G>T (p.Ala2848Ser)
NM_004385.5(VCAN):c.8548C>A (p.Pro2850Thr)
NM_004385.5(VCAN):c.8608G>A (p.Val2870Ile)
NM_004385.5(VCAN):c.8740G>A (p.Glu2914Lys)
NM_004385.5(VCAN):c.9134C>T (p.Thr3045Ile) rs73148633
NM_004385.5(VCAN):c.9274C>A (p.Arg3092Ser)
NM_004385.5(VCAN):c.9364G>A (p.Asp3122Asn)
NM_004385.5(VCAN):c.9902T>A (p.Val3301Asp)
NM_004385.5(VCAN):c.9918G>C (p.Lys3306Asn) rs1748612637

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