ClinVar Miner

List of variants in gene OFD1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.2261-80G>A rs6527959 0.36225
NM_003611.3(OFD1):c.1130-272A>G rs2074099 0.28441
NM_003611.3(OFD1):c.1129+234A>G rs73633577 0.28098
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_003611.3(OFD1):c.655-140G>C rs16992216 0.04133
NM_003611.3(OFD1):c.828+51G>A rs17311049 0.02375
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_003611.3(OFD1):c.2758-53A>C rs144401718 0.02254
NM_003611.3(OFD1):c.112-63C>T rs142075256 0.02252
NM_003611.3(OFD1):c.935+663C>T rs139868392 0.02235
NM_003611.3(OFD1):c.312+206G>T rs59650333 0.02134
NM_003611.3(OFD1):c.935+518A>G rs139186459 0.02004
NM_003611.3(OFD1):c.1412-411G>A rs6633319 0.01656
NM_003611.3(OFD1):c.935+636A>G rs9699014 0.01595
NM_003611.3(OFD1):c.1655-189A>G rs7058591 0.01592
NM_003611.3(OFD1):c.829-287A>T rs761965435 0.01579
NM_003611.3(OFD1):c.1055+264A>G rs187960773 0.01560
NM_003611.3(OFD1):c.1412-75dup rs200184687 0.01557
NM_003611.3(OFD1):c.2387+249C>A rs16979184 0.01536
NM_003611.3(OFD1):c.2489-90G>A rs16979187 0.01532
NM_003611.3(OFD1):c.829-254G>T rs141380452 0.01515
NM_003611.3(OFD1):c.2997-29A>G rs148787280 0.01335
NM_003611.3(OFD1):c.1411+240C>T rs151068148 0.01334
NM_003611.3(OFD1):c.*123T>G rs182746098 0.01246
NM_003611.3(OFD1):c.1129+208A>G rs143221184 0.00964
NM_003611.3(OFD1):c.2260+160C>G rs151255070 0.00887
NM_003611.3(OFD1):c.412+281A>C rs116542198 0.00871
NM_003611.3(OFD1):c.517+298C>G rs143016744 0.00755
NM_003611.3(OFD1):c.2388-188A>T rs147342417 0.00716
NM_003611.3(OFD1):c.313-175A>G rs185739141 0.00701
NM_003611.3(OFD1):c.2996+81T>C rs190979841 0.00683
NM_003611.3(OFD1):c.1654+191T>G rs138721221 0.00641
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_003611.3(OFD1):c.1654+336G>A rs141147258 0.00617
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
NM_003611.3(OFD1):c.413-263G>A rs148137087 0.00440
NM_003611.3(OFD1):c.1542+21G>A rs16979182 0.00425
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_003611.3(OFD1):c.2757+52C>T rs189935382 0.00301
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.2388-38A>G rs140196295 0.00296
NM_003611.3(OFD1):c.1655-89T>C rs750444669 0.00235
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_003611.3(OFD1):c.2599+34G>A rs191772761 0.00206
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_003611.3(OFD1):c.2261-24G>A rs146759174 0.00176
NM_003611.3(OFD1):c.2996+34A>C rs373123585 0.00128
NM_003611.3(OFD1):c.655-32G>C rs191310440 0.00122
NM_003611.3(OFD1):c.*3A>G rs183202009 0.00113
NM_003611.3(OFD1):c.381+27A>G rs375363601 0.00082
NM_003611.3(OFD1):c.654+41T>C rs370365975 0.00055
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_003611.3(OFD1):c.1654+9C>T rs200007045 0.00044
NM_003611.3(OFD1):c.1543-19C>G rs201761130 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1129+8T>A rs199572133 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00023
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.412+965C>T rs778598253 0.00014
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) rs140561107 0.00012
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) rs746612831 0.00011
NM_003611.3(OFD1):c.2600-4T>G rs753195130 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003611.3(OFD1):c.935+12A>G rs199773671 0.00010
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295 0.00009
NM_003611.3(OFD1):c.679A>G (p.Ile227Val) rs748477774 0.00008
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 0.00007
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491 0.00006
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_003611.3(OFD1):c.2139C>T (p.Val713=) rs764423950 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) rs1374240720 0.00004
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys) rs770634301 0.00004
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.1703G>A (p.Arg568His) rs376012267 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545 0.00002
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 0.00002
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) rs1458317780 0.00002
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) rs780055525 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_003611.3(OFD1):c.815A>G (p.His272Arg) rs781277679 0.00002
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1099C>G (p.Arg367Gly) rs312262863 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_003611.3(OFD1):c.1617T>G (p.Val539=) rs1156292139 0.00001
NM_003611.3(OFD1):c.1719A>G (p.Leu573=) rs1186088715 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) rs775705991 0.00001
NM_003611.3(OFD1):c.2224G>A (p.Ala742Thr) rs1569151549 0.00001
NM_003611.3(OFD1):c.2289C>A (p.Pro763=) rs947500861 0.00001
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg) rs1178559792 0.00001
NM_003611.3(OFD1):c.2928+1G>T rs1190659995 0.00001
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg) rs777790587 0.00001
NM_003611.3(OFD1):c.2996+10T>C rs769127095 0.00001
NM_003611.3(OFD1):c.313G>A (p.Val105Ile) rs772018123 0.00001
NM_003611.3(OFD1):c.676G>A (p.Glu226Lys) rs1273056528 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.*47G>A rs202080584
NM_003611.3(OFD1):c.1003A>G (p.Ile335Val) rs2146992617
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly) rs758903488
NM_003611.3(OFD1):c.1055+118del rs3214141
NM_003611.3(OFD1):c.1055+187C>G rs190715863
NM_003611.3(OFD1):c.1055+214C>A rs151120669
NM_003611.3(OFD1):c.1056G>T (p.Lys352Asn)
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.112-172del rs3214140
NM_003611.3(OFD1):c.1130-175C>T rs16999063
NM_003611.3(OFD1):c.115C>G (p.Gln39Glu)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1221+1_1221+2del rs1131691619
NM_003611.3(OFD1):c.1248G>C (p.Gln416His)
NM_003611.3(OFD1):c.1249T>A (p.Ser417Thr)
NM_003611.3(OFD1):c.126C>T (p.Asn42=)
NM_003611.3(OFD1):c.1276A>G (p.Met426Val)
NM_003611.3(OFD1):c.1309T>A (p.Tyr437Asn)
NM_003611.3(OFD1):c.1315C>G (p.Leu439Val)
NM_003611.3(OFD1):c.1332del (p.Lys444fs) rs587784231
NM_003611.3(OFD1):c.1365_1368del (p.Lys455fs)
NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter) rs746875019
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003611.3(OFD1):c.1412-11dup rs36052228
NM_003611.3(OFD1):c.1412-5C>T rs1235401479
NM_003611.3(OFD1):c.1412-8C>T rs764992175
NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)
NM_003611.3(OFD1):c.1425G>T (p.Pro475=)
NM_003611.3(OFD1):c.1432G>C (p.Glu478Gln)
NM_003611.3(OFD1):c.1464A>G (p.Lys488=)
NM_003611.3(OFD1):c.1485del (p.Glu496fs) rs2047765952
NM_003611.3(OFD1):c.1492GAG[1] (p.Glu499del)
NM_003611.3(OFD1):c.1512G>A (p.Arg504=)
NM_003611.3(OFD1):c.1513C>G (p.Gln505Glu)
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
NM_003611.3(OFD1):c.151C>T (p.Pro51Ser)
NM_003611.3(OFD1):c.1543-147dup rs201339023
NM_003611.3(OFD1):c.1543-2A>C rs398123809
NM_003611.3(OFD1):c.1607C>T (p.Thr536Ile)
NM_003611.3(OFD1):c.162_166del (p.Ser54fs)
NM_003611.3(OFD1):c.1649A>T (p.Gln550Leu)
NM_003611.3(OFD1):c.1654+5G>C rs1555906316
NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln) rs1316461983
NM_003611.3(OFD1):c.1738C>G (p.Pro580Ala)
NM_003611.3(OFD1):c.1751A>G (p.Glu584Gly) rs2047874237
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
NM_003611.3(OFD1):c.1803A>G (p.Ala601=) rs770394963
NM_003611.3(OFD1):c.1808T>C (p.Met603Thr)
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser) rs373706613
NM_003611.3(OFD1):c.1830T>G (p.Asn610Lys)
NM_003611.3(OFD1):c.1840del (p.Ala614fs) rs1555906894
NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser) rs1555906903
NM_003611.3(OFD1):c.1918C>G (p.Gln640Glu) rs1085307577
NM_003611.3(OFD1):c.1944T>C (p.Ala648=)
NM_003611.3(OFD1):c.1979_1980del (p.Ser660fs) rs312262887
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del)
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2053A>G (p.Ser685Gly)
NM_003611.3(OFD1):c.2105C>T (p.Pro702Leu)
NM_003611.3(OFD1):c.2114G>A (p.Gly705Asp)
NM_003611.3(OFD1):c.2135_2137dup (p.Asp712_Val713insAsp)
NM_003611.3(OFD1):c.214G>C (p.Gly72Arg)
NM_003611.3(OFD1):c.217G>A (p.Ala73Thr)
NM_003611.3(OFD1):c.217G>C (p.Ala73Pro)
NM_003611.3(OFD1):c.2207C>T (p.Ser736Phe)
NM_003611.3(OFD1):c.2210C>A (p.Thr737Lys) rs747090131
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) rs1569102409
NM_003611.3(OFD1):c.2294C>T (p.Pro765Leu)
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003611.3(OFD1):c.2321C>T (p.Ser774Leu)
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser) rs2047912842
NM_003611.3(OFD1):c.2387+90_2387+91dup rs112117780
NM_003611.3(OFD1):c.2387+91dup rs112117780
NM_003611.3(OFD1):c.249A>C (p.Gln83His)
NM_003611.3(OFD1):c.2537C>T (p.Ala846Val)
NM_003611.3(OFD1):c.2581del (p.Leu861fs)
NM_003611.3(OFD1):c.2600-18_2600delinsAACT
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2656del (p.Gln886fs) rs886041992
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2679_2696del (p.Arg893_Gln898del) rs2048162248
NM_003611.3(OFD1):c.2714T>C (p.Leu905Ser)
NM_003611.3(OFD1):c.2735dup (p.Glu913fs) rs2048164566
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro)
NM_003611.3(OFD1):c.2757+163dup rs202238503
NM_003611.3(OFD1):c.2760G>T (p.Lys920Asn) rs2147085959
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
NM_003611.3(OFD1):c.2833C>T (p.Gln945Ter) rs2147086219
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)
NM_003611.3(OFD1):c.2929-42C>A
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)
NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
NM_003611.3(OFD1):c.2981G>A (p.Ser994Asn) rs1555909002
NM_003611.3(OFD1):c.2990T>C (p.Val997Ala)
NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln)
NM_003611.3(OFD1):c.3005G>C (p.Gly1002Ala)
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=) rs758646234
NM_003611.3(OFD1):c.313-3A>G rs1064796910
NM_003611.3(OFD1):c.332del (p.Leu111fs)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.412+264C>A rs868585834
NM_003611.3(OFD1):c.412+282del rs751700372
NM_003611.3(OFD1):c.412+282dup rs751700372
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter)
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs) rs398123810
NM_003611.3(OFD1):c.508_509del (p.Asp170fs) rs886039861
NM_003611.3(OFD1):c.517+1G>A
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.549dup (p.Ala184fs) rs1057518526
NM_003611.3(OFD1):c.580G>A (p.Glu194Lys)
NM_003611.3(OFD1):c.614_617del (p.Arg205fs)
NM_003611.3(OFD1):c.616_617del (p.Glu206fs)
NM_003611.3(OFD1):c.641A>T (p.Glu214Val)
NM_003611.3(OFD1):c.655-8A>G rs1555902797
NM_003611.3(OFD1):c.698A>G (p.Glu233Gly)
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.716A>G (p.Glu239Gly)
NM_003611.3(OFD1):c.773A>G (p.Glu258Gly)
NM_003611.3(OFD1):c.778C>T (p.Leu260Phe) rs2146969994
NM_003611.3(OFD1):c.806A>G (p.Glu269Gly)
NM_003611.3(OFD1):c.828+4G>T
NM_003611.3(OFD1):c.829-280del rs57776230
NM_003611.3(OFD1):c.829-287del rs35839446
NM_003611.3(OFD1):c.829-287dup rs35839446
NM_003611.3(OFD1):c.829-6A>C rs372044938
NM_003611.3(OFD1):c.846T>G (p.Ile282Met) rs2146983984
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.889A>G (p.Arg297Gly) rs2146984200
NM_003611.3(OFD1):c.935+595A>G
NM_003611.3(OFD1):c.935+628T>C
NM_003611.3(OFD1):c.935+66A>G rs7878592
NM_003611.3(OFD1):c.967del (p.Ser323fs) rs780268478
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
NM_003611.3(OFD1):c.979G>A (p.Ala327Thr)
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
Single allele

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