ClinVar Miner

List of variants studied for type 2 collagenopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.1101T>C (p.Asn367=) rs114523318 0.01928
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_212482.4(FN1):c.1425G>C (p.Gly475=) rs59884263 0.01019
NM_212482.4(FN1):c.3189C>T (p.Thr1063=) rs78262627 0.00693
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_212482.4(FN1):c.199C>A (p.Arg67=) rs112643151 0.00519
NM_212482.4(FN1):c.4146A>G (p.Pro1382=) rs114987066 0.00296
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala) rs545761792 0.00120
NM_212482.4(FN1):c.2130C>T (p.Thr710=) rs140116931 0.00113
NM_212482.4(FN1):c.416-17C>T rs142394008 0.00106
NM_212482.4(FN1):c.547+19T>C rs183120644 0.00099
NM_212482.4(FN1):c.1002G>A (p.Thr334=) rs138271073 0.00094
NM_212482.4(FN1):c.1110G>A (p.Thr370=) rs149123808 0.00092
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_212482.4(FN1):c.1626C>T (p.Asn542=) rs138144264 0.00080
NM_212482.4(FN1):c.1547-6A>G rs3213885 0.00077
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_212482.4(FN1):c.1023C>T (p.Ser341=) rs138120768 0.00063
NM_212482.4(FN1):c.2829C>T (p.Pro943=) rs112901124 0.00054
NM_212482.4(FN1):c.6336T>C (p.Pro2112=) rs148278567 0.00051
NM_212482.4(FN1):c.117C>G (p.Pro39=) rs148348956 0.00049
NM_212482.4(FN1):c.5623-13C>G rs192981567 0.00049
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) rs138593265 0.00045
NM_212482.4(FN1):c.5164+14G>T rs186800160 0.00040
NM_212482.4(FN1):c.5532A>C (p.Arg1844=) rs149965879 0.00040
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_212482.4(FN1):c.1676-9G>A rs372339259 0.00034
NM_212482.4(FN1):c.1860G>A (p.Pro620=) rs147845471 0.00031
NM_212482.4(FN1):c.2713+20A>G rs368435928 0.00027
NM_212482.4(FN1):c.1638C>T (p.Phe546=) rs368833093 0.00026
NM_212482.4(FN1):c.2538G>A (p.Ser846=) rs145300210 0.00025
NM_212482.4(FN1):c.1143C>T (p.Asp381=) rs200307732 0.00023
NM_212482.4(FN1):c.3199G>A (p.Val1067Met) rs145483591 0.00021
NM_212482.4(FN1):c.3909T>G (p.Val1303=) rs200729428 0.00021
NM_212482.4(FN1):c.4791C>T (p.Ser1597=) rs374970848 0.00020
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_212482.4(FN1):c.141A>C (p.Gln47His) rs145263539 0.00019
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) rs199957523 0.00019
NM_212482.4(FN1):c.278-18C>T rs57534860 0.00019
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) rs201136367 0.00019
NM_212482.4(FN1):c.2714-11_2714-10del rs371418810 0.00017
NM_212482.4(FN1):c.1820-16A>G rs72943927 0.00016
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) rs146898035 0.00016
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 0.00015
NM_212482.4(FN1):c.3012G>A (p.Gln1004=) rs142994783 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_212482.4(FN1):c.1217-11G>A rs374987974 0.00014
NM_212482.4(FN1):c.6158-7C>T rs372760499 0.00012
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) rs565714281 0.00011
NM_212482.4(FN1):c.5977+7A>G rs373840022 0.00011
NM_212482.4(FN1):c.6459G>A (p.Pro2153=) rs372396685 0.00011
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser) rs145838840 0.00010
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) rs34043251 0.00010
NM_212482.4(FN1):c.5051-9C>A rs376036111 0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_212482.4(FN1):c.3492G>A (p.Ala1164=) rs548899134 0.00009
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys) rs765428225 0.00009
NM_212482.4(FN1):c.1413A>C (p.Thr471=) rs1009644782 0.00007
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) rs199764052 0.00007
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile) rs201181695 0.00007
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) rs532827189 0.00006
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly) rs199941833 0.00006
NM_212482.4(FN1):c.5943T>C (p.Ala1981=) rs200485690 0.00006
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) rs372237449 0.00006
NM_212482.4(FN1):c.6157+4T>C rs779209474 0.00006
NM_212482.4(FN1):c.7116C>T (p.Asn2372=) rs568449322 0.00006
NM_212482.4(FN1):c.862G>A (p.Asp288Asn) rs200731330 0.00006
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) rs139205058 0.00005
NM_212482.4(FN1):c.1053C>T (p.Tyr351=) rs202133752 0.00005
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala) rs752617883 0.00005
NM_212482.4(FN1):c.4626G>A (p.Pro1542=) rs142628915 0.00005
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) rs376754454 0.00005
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) rs939449148 0.00004
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser) rs181283286 0.00004
NM_212482.4(FN1):c.247C>A (p.Arg83=) rs780120577 0.00004
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) rs370342980 0.00004
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) rs751026014 0.00004
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys) rs200891393 0.00004
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val) rs370180533 0.00004
NM_212482.4(FN1):c.6002G>A (p.Arg2001His) rs749462589 0.00004
NM_212482.4(FN1):c.6066C>T (p.Thr2022=) rs144324514 0.00004
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val) rs1330217896 0.00004
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) rs138219703 0.00003
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) rs748276504 0.00003
NM_212482.4(FN1):c.3288C>T (p.Thr1096=) rs754499962 0.00003
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) rs766780476 0.00003
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) rs375667567 0.00003
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) rs755984905 0.00003
NM_212482.4(FN1):c.2299+16C>T rs201231230 0.00002
NM_212482.4(FN1):c.4143C>T (p.Pro1381=) rs767010734 0.00002
NM_212482.4(FN1):c.4161C>A (p.Thr1387=) rs370663743 0.00002
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=) rs147150819 0.00002
NM_212482.4(FN1):c.5511T>C (p.Asn1837=) rs760293471 0.00002
NM_212482.4(FN1):c.592G>A (p.Gly198Arg) rs561607931 0.00002
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile) rs149294265 0.00002
NM_212482.4(FN1):c.790G>A (p.Gly264Ser) rs950443871 0.00002
NM_212482.4(FN1):c.907C>T (p.Pro303Ser) rs750138959 0.00002
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln) rs376696206 0.00001
NM_212482.4(FN1):c.2429C>T (p.Ala810Val) rs568343071 0.00001
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val) rs80101897 0.00001
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala) rs770129874 0.00001
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile) rs201469351 0.00001
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg) rs760993609 0.00001
NM_212482.4(FN1):c.548-10T>C rs1407477861 0.00001
NM_212482.4(FN1):c.5602G>A (p.Val1868Met) rs369072643 0.00001
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu) rs145946514 0.00001
NM_212482.4(FN1):c.5735G>A (p.Arg1912His) rs775421803 0.00001
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn) rs201097962 0.00001
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter) rs754396418 0.00001
NM_212482.4(FN1):c.665G>A (p.Arg222His) rs778971356 0.00001
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile) rs751303604 0.00001
NM_212482.4(FN1):c.749A>C (p.Asp250Ala) rs372163398 0.00001
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) rs761729774
NM_212482.4(FN1):c.1449G>A (p.Gln483=) rs749775069
NM_212482.4(FN1):c.148+16G>A rs367674539
NM_212482.4(FN1):c.1481T>C (p.Met494Thr) rs2064511350
NM_212482.4(FN1):c.1942-38GT[12] rs5838511
NM_212482.4(FN1):c.1942-38GT[13] rs5838511
NM_212482.4(FN1):c.1942-38GT[14] rs5838511
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) rs770505069
NM_212482.4(FN1):c.2299+3A>T rs2062278053
NM_212482.4(FN1):c.2518+12G>C rs7570208
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) rs137854488
NM_212482.4(FN1):c.2967G>C (p.Leu989=) rs372040503
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) rs144581583
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu) rs1334066739
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu) rs202245868
NM_212482.4(FN1):c.5164+3A>G rs2105944563
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs) rs771111687
NM_212482.4(FN1):c.5964C>T (p.Ile1988=) rs143393843
NM_212482.4(FN1):c.6507G>A (p.Pro2169=) rs145436721
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val) rs17449032
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys) rs759085028
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del) rs1278884339
NM_212482.4(FN1):c.7363-20del rs752005289

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