ClinVar Miner

List of variants in gene FREM1 reported as uncertain significance for dysostosis

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 370
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00038
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00038
NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala) rs372699811 0.00026
NM_001379081.2(FREM1):c.1165G>T (p.Val389Leu) rs370159965 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) rs148995688 0.00017
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu) rs369645961 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_001379081.2(FREM1):c.517G>A (p.Val173Ile) rs539557870 0.00007
NM_001379081.2(FREM1):c.1394-15T>C rs762215552 0.00006
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val) rs200883446 0.00006
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala) rs370677344 0.00006
NM_001379081.2(FREM1):c.5596C>T (p.His1866Tyr) rs528734964 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001379081.2(FREM1):c.4238C>G (p.Thr1413Arg) rs200573582 0.00005
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met) rs544959201 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00004
NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly) rs377200008 0.00004
NM_001379081.2(FREM1):c.982C>G (p.Pro328Ala) rs761361279 0.00004
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00003
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) rs200490112 0.00003
NM_001379081.2(FREM1):c.553C>T (p.His185Tyr) rs764906137 0.00003
NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys) rs764904063 0.00002
NM_001379081.2(FREM1):c.4264G>A (p.Gly1422Arg) rs771800252 0.00002
NM_001379081.2(FREM1):c.1853A>G (p.His618Arg) rs200445890 0.00001
NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr) rs755724341 0.00001
NM_001379081.2(FREM1):c.2504G>A (p.Gly835Glu) rs779979968 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr) rs556974765 0.00001
NM_001379081.2(FREM1):c.3274+4A>G rs761999855 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.4427C>G (p.Ser1476Cys) rs1281430978 0.00001
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg) rs536683402 0.00001
NM_001379081.2(FREM1):c.5072A>G (p.His1691Arg) rs755062740 0.00001
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001379081.2(FREM1):c.973G>T (p.Asp325Tyr) rs1429190733 0.00001
NM_001379081.2(FREM1):c.1059A>C (p.Arg353Ser)
NM_001379081.2(FREM1):c.1102A>T (p.Ile368Phe)
NM_001379081.2(FREM1):c.110G>A (p.Gly37Asp)
NM_001379081.2(FREM1):c.1130A>C (p.His377Pro)
NM_001379081.2(FREM1):c.114C>G (p.His38Gln)
NM_001379081.2(FREM1):c.1198A>G (p.Met400Val)
NM_001379081.2(FREM1):c.1199T>A (p.Met400Lys)
NM_001379081.2(FREM1):c.1240C>T (p.Pro414Ser)
NM_001379081.2(FREM1):c.1243C>T (p.Arg415Cys)
NM_001379081.2(FREM1):c.1244G>A (p.Arg415His)
NM_001379081.2(FREM1):c.1284G>T (p.Gln428His)
NM_001379081.2(FREM1):c.1292C>T (p.Ala431Val)
NM_001379081.2(FREM1):c.1308G>C (p.Gln436His)
NM_001379081.2(FREM1):c.1321G>A (p.Asp441Asn)
NM_001379081.2(FREM1):c.1325A>T (p.Asn442Ile)
NM_001379081.2(FREM1):c.1330G>A (p.Asp444Asn)
NM_001379081.2(FREM1):c.1337G>A (p.Gly446Asp)
NM_001379081.2(FREM1):c.1355C>T (p.Thr452Ile)
NM_001379081.2(FREM1):c.136G>A (p.Asp46Asn)
NM_001379081.2(FREM1):c.13A>T (p.Ser5Cys)
NM_001379081.2(FREM1):c.1457A>T (p.Asp486Val)
NM_001379081.2(FREM1):c.1503T>G (p.Asp501Glu)
NM_001379081.2(FREM1):c.1508A>G (p.His503Arg)
NM_001379081.2(FREM1):c.150C>T (p.Ala50=)
NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)
NM_001379081.2(FREM1):c.1556A>G (p.Asp519Gly)
NM_001379081.2(FREM1):c.1565C>T (p.Pro522Leu)
NM_001379081.2(FREM1):c.1637G>A (p.Arg546Gln)
NM_001379081.2(FREM1):c.1669A>G (p.Ile557Val)
NM_001379081.2(FREM1):c.1715A>G (p.Lys572Arg)
NM_001379081.2(FREM1):c.1739-4A>G
NM_001379081.2(FREM1):c.1775T>G (p.Phe592Cys)
NM_001379081.2(FREM1):c.1796G>A (p.Arg599His)
NM_001379081.2(FREM1):c.1814T>A (p.Ile605Asn)
NM_001379081.2(FREM1):c.1815C>G (p.Ile605Met) rs763439818
NM_001379081.2(FREM1):c.1882G>A (p.Val628Met)
NM_001379081.2(FREM1):c.1886C>G (p.Ala629Gly)
NM_001379081.2(FREM1):c.1894C>T (p.His632Tyr)
NM_001379081.2(FREM1):c.1918C>T (p.Leu640Phe)
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609
NM_001379081.2(FREM1):c.1974G>A (p.Val658=)
NM_001379081.2(FREM1):c.1975G>A (p.Ala659Thr)
NM_001379081.2(FREM1):c.1979A>G (p.Tyr660Cys)
NM_001379081.2(FREM1):c.199C>G (p.Pro67Ala)
NM_001379081.2(FREM1):c.2008G>A (p.Asp670Asn)
NM_001379081.2(FREM1):c.2023G>C (p.Asp675His)
NM_001379081.2(FREM1):c.2032C>G (p.Leu678Val)
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353
NM_001379081.2(FREM1):c.2051C>A (p.Thr684Asn)
NM_001379081.2(FREM1):c.2090C>T (p.Ala697Val)
NM_001379081.2(FREM1):c.2107G>T (p.Val703Leu)
NM_001379081.2(FREM1):c.2117T>C (p.Ile706Thr)
NM_001379081.2(FREM1):c.2124A>G (p.Lys708=)
NM_001379081.2(FREM1):c.214G>C (p.Val72Leu)
NM_001379081.2(FREM1):c.215T>C (p.Val72Ala)
NM_001379081.2(FREM1):c.2169+9A>T
NM_001379081.2(FREM1):c.216T>G (p.Val72=)
NM_001379081.2(FREM1):c.2218A>G (p.Ile740Val)
NM_001379081.2(FREM1):c.2290A>C (p.Ile764Leu)
NM_001379081.2(FREM1):c.2327A>T (p.Gln776Leu)
NM_001379081.2(FREM1):c.2337+20T>C
NM_001379081.2(FREM1):c.2351C>A (p.Pro784His)
NM_001379081.2(FREM1):c.2356A>G (p.Lys786Glu)
NM_001379081.2(FREM1):c.2359G>A (p.Val787Met)
NM_001379081.2(FREM1):c.235G>C (p.Val79Leu)
NM_001379081.2(FREM1):c.2361G>A (p.Val787=)
NM_001379081.2(FREM1):c.2371G>A (p.Gly791Ser)
NM_001379081.2(FREM1):c.2408C>T (p.Ser803Phe)
NM_001379081.2(FREM1):c.2449C>T (p.Arg817Trp)
NM_001379081.2(FREM1):c.2451G>A (p.Arg817=)
NM_001379081.2(FREM1):c.2459C>G (p.Pro820Arg)
NM_001379081.2(FREM1):c.2461C>A (p.Leu821Met)
NM_001379081.2(FREM1):c.2464C>T (p.His822Tyr)
NM_001379081.2(FREM1):c.2466C>T (p.His822=)
NM_001379081.2(FREM1):c.2515T>C (p.Ser839Pro)
NM_001379081.2(FREM1):c.252C>G (p.Phe84Leu)
NM_001379081.2(FREM1):c.2542G>T (p.Val848Phe)
NM_001379081.2(FREM1):c.2546+19T>A
NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala)
NM_001379081.2(FREM1):c.2563A>T (p.Thr855Ser)
NM_001379081.2(FREM1):c.2600C>T (p.Thr867Ile)
NM_001379081.2(FREM1):c.2607C>T (p.Gly869=)
NM_001379081.2(FREM1):c.260A>G (p.Asn87Ser)
NM_001379081.2(FREM1):c.2612A>G (p.Asn871Ser)
NM_001379081.2(FREM1):c.2617G>A (p.Ala873Thr)
NM_001379081.2(FREM1):c.261C>G (p.Asn87Lys)
NM_001379081.2(FREM1):c.2635G>A (p.Val879Ile)
NM_001379081.2(FREM1):c.2640G>T (p.Glu880Asp)
NM_001379081.2(FREM1):c.269A>T (p.Lys90Met)
NM_001379081.2(FREM1):c.277C>T (p.His93Tyr)
NM_001379081.2(FREM1):c.284G>A (p.Gly95Asp)
NM_001379081.2(FREM1):c.2899G>A (p.Glu967Lys)
NM_001379081.2(FREM1):c.2914C>G (p.Pro972Ala)
NM_001379081.2(FREM1):c.2945C>T (p.Ser982Leu)
NM_001379081.2(FREM1):c.2947G>A (p.Asp983Asn)
NM_001379081.2(FREM1):c.2986A>G (p.Asn996Asp)
NM_001379081.2(FREM1):c.2995A>G (p.Asn999Asp)
NM_001379081.2(FREM1):c.3010C>T (p.Leu1004Phe)
NM_001379081.2(FREM1):c.3020C>T (p.Ser1007Phe)
NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)
NM_001379081.2(FREM1):c.3047C>T (p.Thr1016Met)
NM_001379081.2(FREM1):c.3080T>C (p.Ile1027Thr)
NM_001379081.2(FREM1):c.3089-3dup
NM_001379081.2(FREM1):c.3160G>A (p.Asp1054Asn)
NM_001379081.2(FREM1):c.3161A>C (p.Asp1054Ala)
NM_001379081.2(FREM1):c.3164C>G (p.Thr1055Ser)
NM_001379081.2(FREM1):c.3191T>C (p.Leu1064Ser)
NM_001379081.2(FREM1):c.329+5G>A
NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys)
NM_001379081.2(FREM1):c.3301G>A (p.Ala1101Thr)
NM_001379081.2(FREM1):c.3301G>T (p.Ala1101Ser)
NM_001379081.2(FREM1):c.3317A>C (p.Tyr1106Ser)
NM_001379081.2(FREM1):c.3324G>A (p.Gln1108=)
NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr) rs753814072
NM_001379081.2(FREM1):c.3357C>A (p.Asp1119Glu)
NM_001379081.2(FREM1):c.3363C>G (p.Phe1121Leu)
NM_001379081.2(FREM1):c.3365C>T (p.Thr1122Met)
NM_001379081.2(FREM1):c.3366G>A (p.Thr1122=)
NM_001379081.2(FREM1):c.3373G>A (p.Val1125Ile)
NM_001379081.2(FREM1):c.3376A>G (p.Thr1126Ala)
NM_001379081.2(FREM1):c.3385A>G (p.Lys1129Glu)
NM_001379081.2(FREM1):c.3401A>G (p.Glu1134Gly)
NM_001379081.2(FREM1):c.3420A>G (p.Ile1140Met)
NM_001379081.2(FREM1):c.3437A>G (p.Asp1146Gly)
NM_001379081.2(FREM1):c.3446C>T (p.Pro1149Leu)
NM_001379081.2(FREM1):c.3454G>A (p.Val1152Ile)
NM_001379081.2(FREM1):c.3472-9C>G
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3484C>G (p.Gln1162Glu)
NM_001379081.2(FREM1):c.34G>T (p.Val12Leu)
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.3515G>A (p.Ser1172Asn)
NM_001379081.2(FREM1):c.3518C>T (p.Ala1173Val)
NM_001379081.2(FREM1):c.3554T>C (p.Phe1185Ser)
NM_001379081.2(FREM1):c.3557G>A (p.Ser1186Asn)
NM_001379081.2(FREM1):c.3565C>G (p.Gln1189Glu)
NM_001379081.2(FREM1):c.356A>C (p.Glu119Ala)
NM_001379081.2(FREM1):c.3578A>G (p.His1193Arg)
NM_001379081.2(FREM1):c.357A>C (p.Glu119Asp)
NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg)
NM_001379081.2(FREM1):c.3622A>T (p.Asn1208Tyr)
NM_001379081.2(FREM1):c.3651A>T (p.Lys1217Asn)
NM_001379081.2(FREM1):c.3653A>G (p.His1218Arg)
NM_001379081.2(FREM1):c.3658C>G (p.Pro1220Ala)
NM_001379081.2(FREM1):c.3685C>T (p.Leu1229Phe)
NM_001379081.2(FREM1):c.3689A>G (p.Lys1230Arg)
NM_001379081.2(FREM1):c.3694+6G>C rs749794055
NM_001379081.2(FREM1):c.3698T>G (p.Met1233Arg)
NM_001379081.2(FREM1):c.3702G>T (p.Arg1234Ser)
NM_001379081.2(FREM1):c.3722A>G (p.Asp1241Gly)
NM_001379081.2(FREM1):c.3736G>A (p.Ala1246Thr)
NM_001379081.2(FREM1):c.3737C>T (p.Ala1246Val)
NM_001379081.2(FREM1):c.373G>T (p.Val125Phe)
NM_001379081.2(FREM1):c.3746T>G (p.Phe1249Cys)
NM_001379081.2(FREM1):c.3748A>G (p.Thr1250Ala)
NM_001379081.2(FREM1):c.3750A>C (p.Thr1250=)
NM_001379081.2(FREM1):c.3755A>G (p.Gln1252Arg)
NM_001379081.2(FREM1):c.3764A>T (p.Asp1255Val)
NM_001379081.2(FREM1):c.3771A>T (p.Lys1257Asn)
NM_001379081.2(FREM1):c.3792T>G (p.Ile1264Met)
NM_001379081.2(FREM1):c.3811G>A (p.Val1271Ile)
NM_001379081.2(FREM1):c.3829A>G (p.Met1277Val)
NM_001379081.2(FREM1):c.3836G>A (p.Ser1279Asn)
NM_001379081.2(FREM1):c.3865G>A (p.Gly1289Ser)
NM_001379081.2(FREM1):c.3872C>T (p.Thr1291Ile)
NM_001379081.2(FREM1):c.3875G>T (p.Arg1292Leu) rs41265308
NM_001379081.2(FREM1):c.387A>T (p.Glu129Asp)
NM_001379081.2(FREM1):c.3892A>T (p.Ile1298Phe)
NM_001379081.2(FREM1):c.3900A>T (p.Ser1300=)
NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del)
NM_001379081.2(FREM1):c.3955C>T (p.Pro1319Ser)
NM_001379081.2(FREM1):c.3975G>T (p.Gln1325His)
NM_001379081.2(FREM1):c.3981+9C>G
NM_001379081.2(FREM1):c.3982-12G>A
NM_001379081.2(FREM1):c.3982-12G>T
NM_001379081.2(FREM1):c.3986G>T (p.Gly1329Val)
NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr) rs547296209
NM_001379081.2(FREM1):c.4090C>A (p.Gln1364Lys)
NM_001379081.2(FREM1):c.4109A>G (p.Tyr1370Cys)
NM_001379081.2(FREM1):c.4133C>T (p.Ser1378Phe)
NM_001379081.2(FREM1):c.4170G>T (p.Met1390Ile)
NM_001379081.2(FREM1):c.4177+4A>T
NM_001379081.2(FREM1):c.4178-5T>G
NM_001379081.2(FREM1):c.4178-8dup
NM_001379081.2(FREM1):c.4181A>G (p.Asp1394Gly)
NM_001379081.2(FREM1):c.4183A>G (p.Ile1395Val)
NM_001379081.2(FREM1):c.419A>G (p.Asn140Ser)
NM_001379081.2(FREM1):c.4210G>T (p.Val1404Leu)
NM_001379081.2(FREM1):c.4244C>T (p.Thr1415Ile)
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_001379081.2(FREM1):c.4319G>A (p.Gly1440Asp)
NM_001379081.2(FREM1):c.4324A>G (p.Ile1442Val)
NM_001379081.2(FREM1):c.4327G>A (p.Glu1443Lys)
NM_001379081.2(FREM1):c.4345G>A (p.Gly1449Arg)
NM_001379081.2(FREM1):c.4407C>G (p.His1469Gln)
NM_001379081.2(FREM1):c.4430G>A (p.Ser1477Asn)
NM_001379081.2(FREM1):c.4465C>T (p.Arg1489Trp)
NM_001379081.2(FREM1):c.4489A>G (p.Ile1497Val)
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.4541G>C (p.Gly1514Ala)
NM_001379081.2(FREM1):c.4580C>A (p.Pro1527His)
NM_001379081.2(FREM1):c.458C>T (p.Ala153Val)
NM_001379081.2(FREM1):c.4612C>G (p.Pro1538Ala)
NM_001379081.2(FREM1):c.4634T>G (p.Leu1545Arg)
NM_001379081.2(FREM1):c.4638G>C (p.Leu1546Phe)
NM_001379081.2(FREM1):c.4639G>C (p.Val1547Leu)
NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)
NM_001379081.2(FREM1):c.4707G>T (p.Gln1569His)
NM_001379081.2(FREM1):c.4712A>G (p.Asp1571Gly)
NM_001379081.2(FREM1):c.472C>A (p.Leu158Met)
NM_001379081.2(FREM1):c.4730T>C (p.Val1577Ala)
NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)
NM_001379081.2(FREM1):c.4820G>A (p.Gly1607Glu) rs369791896
NM_001379081.2(FREM1):c.484G>A (p.Asp162Asn)
NM_001379081.2(FREM1):c.484G>T (p.Asp162Tyr)
NM_001379081.2(FREM1):c.4858-20T>A
NM_001379081.2(FREM1):c.4870G>T (p.Asp1624Tyr)
NM_001379081.2(FREM1):c.4872C>G (p.Asp1624Glu)
NM_001379081.2(FREM1):c.4899G>C (p.Leu1633Phe)
NM_001379081.2(FREM1):c.4912C>G (p.Gln1638Glu)
NM_001379081.2(FREM1):c.491A>G (p.Asp164Gly)
NM_001379081.2(FREM1):c.4943G>A (p.Gly1648Glu)
NM_001379081.2(FREM1):c.4949A>C (p.Tyr1650Ser)
NM_001379081.2(FREM1):c.495G>C (p.Arg165Ser)
NM_001379081.2(FREM1):c.4961G>A (p.Arg1654His)
NM_001379081.2(FREM1):c.4972G>T (p.Ala1658Ser)
NM_001379081.2(FREM1):c.5006T>C (p.Ile1669Thr)
NM_001379081.2(FREM1):c.500C>G (p.Ala167Gly)
NM_001379081.2(FREM1):c.5057C>T (p.Thr1686Ile)
NM_001379081.2(FREM1):c.5059+6G>A
NM_001379081.2(FREM1):c.506T>C (p.Leu169Pro)
NM_001379081.2(FREM1):c.5131T>C (p.Ser1711Pro)
NM_001379081.2(FREM1):c.5152A>G (p.Thr1718Ala)
NM_001379081.2(FREM1):c.5184G>T (p.Gly1728=)
NM_001379081.2(FREM1):c.5192C>T (p.Ala1731Val)
NM_001379081.2(FREM1):c.5205-13C>G
NM_001379081.2(FREM1):c.5215A>G (p.Lys1739Glu)
NM_001379081.2(FREM1):c.5220G>T (p.Trp1740Cys) rs995343347
NM_001379081.2(FREM1):c.5262G>T (p.Glu1754Asp)
NM_001379081.2(FREM1):c.5270G>T (p.Gly1757Val)
NM_001379081.2(FREM1):c.5278C>T (p.Pro1760Ser)
NM_001379081.2(FREM1):c.5392A>G (p.Ile1798Val)
NM_001379081.2(FREM1):c.5397G>A (p.Gln1799=)
NM_001379081.2(FREM1):c.5417C>T (p.Thr1806Ile)
NM_001379081.2(FREM1):c.5462A>T (p.Asp1821Val)
NM_001379081.2(FREM1):c.5501A>G (p.Asn1834Ser)
NM_001379081.2(FREM1):c.5513G>A (p.Gly1838Asp)
NM_001379081.2(FREM1):c.5554G>A (p.Gly1852Arg)
NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met)
NM_001379081.2(FREM1):c.55G>C (p.Ala19Pro)
NM_001379081.2(FREM1):c.5629C>A (p.Leu1877Met)
NM_001379081.2(FREM1):c.5639G>T (p.Gly1880Val)
NM_001379081.2(FREM1):c.5651C>A (p.Ser1884Tyr)
NM_001379081.2(FREM1):c.5680AGA[1] (p.Arg1895del)
NM_001379081.2(FREM1):c.56C>T (p.Ala19Val)
NM_001379081.2(FREM1):c.5708T>A (p.Leu1903Gln)
NM_001379081.2(FREM1):c.5713G>A (p.Val1905Ile)
NM_001379081.2(FREM1):c.5728A>G (p.Thr1910Ala)
NM_001379081.2(FREM1):c.5735G>A (p.Arg1912Gln)
NM_001379081.2(FREM1):c.5738G>A (p.Gly1913Asp)
NM_001379081.2(FREM1):c.5754T>G (p.Asp1918Glu)
NM_001379081.2(FREM1):c.5764A>G (p.Arg1922Gly)
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)
NM_001379081.2(FREM1):c.5840A>G (p.Tyr1947Cys)
NM_001379081.2(FREM1):c.5844+3A>C
NM_001379081.2(FREM1):c.5869C>A (p.Leu1957Met)
NM_001379081.2(FREM1):c.5887C>G (p.Pro1963Ala)
NM_001379081.2(FREM1):c.5890A>C (p.Thr1964Pro)
NM_001379081.2(FREM1):c.593C>G (p.Pro198Arg)
NM_001379081.2(FREM1):c.5956C>A (p.Leu1986Met)
NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)
NM_001379081.2(FREM1):c.596G>A (p.Arg199His)
NM_001379081.2(FREM1):c.5976G>A (p.Val1992=)
NM_001379081.2(FREM1):c.6059T>C (p.Leu2020Pro)
NM_001379081.2(FREM1):c.6088C>A (p.Leu2030Met)
NM_001379081.2(FREM1):c.6107T>C (p.Ile2036Thr)
NM_001379081.2(FREM1):c.6109G>A (p.Ala2037Thr)
NM_001379081.2(FREM1):c.6139G>A (p.Asp2047Asn)
NM_001379081.2(FREM1):c.6158G>C (p.Cys2053Ser)
NM_001379081.2(FREM1):c.61G>A (p.Ala21Thr)
NM_001379081.2(FREM1):c.6204C>G (p.Ile2068Met)
NM_001379081.2(FREM1):c.6218G>C (p.Gly2073Ala)
NM_001379081.2(FREM1):c.6251A>C (p.Glu2084Ala)
NM_001379081.2(FREM1):c.6291G>T (p.Gln2097His)
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.631+1G>A
NM_001379081.2(FREM1):c.6310G>A (p.Asp2104Asn)
NM_001379081.2(FREM1):c.632-7A>C
NM_001379081.2(FREM1):c.6336G>T (p.Trp2112Cys)
NM_001379081.2(FREM1):c.6341G>A (p.Gly2114Asp)
NM_001379081.2(FREM1):c.6356T>G (p.Val2119Gly)
NM_001379081.2(FREM1):c.6382G>A (p.Gly2128Ser)
NM_001379081.2(FREM1):c.6383G>A (p.Gly2128Asp)
NM_001379081.2(FREM1):c.6383G>C (p.Gly2128Ala)
NM_001379081.2(FREM1):c.6392C>T (p.Pro2131Leu)
NM_001379081.2(FREM1):c.6404C>G (p.Thr2135Ser)
NM_001379081.2(FREM1):c.6406A>G (p.Asn2136Asp)
NM_001379081.2(FREM1):c.6413G>A (p.Arg2138Lys)
NM_001379081.2(FREM1):c.6430C>G (p.Arg2144Gly)
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.6469C>G (p.Gln2157Glu)
NM_001379081.2(FREM1):c.6473G>A (p.Gly2158Glu)
NM_001379081.2(FREM1):c.6481del (p.Gln2161fs)
NM_001379081.2(FREM1):c.655C>T (p.Pro219Ser)
NM_001379081.2(FREM1):c.666C>G (p.Ser222Arg)
NM_001379081.2(FREM1):c.677G>C (p.Gly226Ala)
NM_001379081.2(FREM1):c.727A>T (p.Met243Leu)
NM_001379081.2(FREM1):c.737G>A (p.Arg246His)
NM_001379081.2(FREM1):c.747T>A (p.His249Gln)
NM_001379081.2(FREM1):c.755C>T (p.Pro252Leu)
NM_001379081.2(FREM1):c.790C>G (p.Leu264Val)
NM_001379081.2(FREM1):c.856A>T (p.Ile286Phe)
NM_001379081.2(FREM1):c.899T>C (p.Met300Thr)
NM_001379081.2(FREM1):c.922G>C (p.Asp308His) rs764642854
NM_001379081.2(FREM1):c.983C>T (p.Pro328Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.