ClinVar Miner

List of variants in gene DRC1 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.2122A>C (p.Asn708His) rs147970345 0.00078
NM_145038.5(DRC1):c.1750T>A (p.Ser584Thr) rs147712523 0.00077
NM_145038.5(DRC1):c.1840C>G (p.Pro614Ala) rs372284377 0.00049
NM_145038.5(DRC1):c.1172C>T (p.Ala391Val) rs148372110 0.00048
NM_145038.5(DRC1):c.1420G>A (p.Ala474Thr) rs145706376 0.00036
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_145038.5(DRC1):c.1399G>C (p.Glu467Gln) rs149007147 0.00029
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val) rs199574440 0.00029
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly) rs139583194 0.00023
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly) rs202052258 0.00022
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr) rs149398412 0.00022
NM_145038.5(DRC1):c.26C>T (p.Ala9Val) rs146049908 0.00021
NM_145038.5(DRC1):c.1186G>A (p.Glu396Lys) rs774466512 0.00016
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) rs142671417 0.00014
NM_145038.5(DRC1):c.1585G>A (p.Asp529Asn) rs201581530 0.00013
NM_145038.5(DRC1):c.1390C>T (p.Arg464Cys) rs377330459 0.00010
NM_145038.5(DRC1):c.1868A>G (p.Asn623Ser) rs573043964 0.00009
NM_145038.5(DRC1):c.617G>A (p.Arg206Gln) rs141540461 0.00009
NM_145038.5(DRC1):c.1358C>G (p.Ser453Cys) rs780100027 0.00007
NM_145038.5(DRC1):c.1775C>T (p.Thr592Met) rs144885892 0.00007
NM_145038.5(DRC1):c.1112C>T (p.Ser371Leu) rs368859380 0.00006
NM_145038.5(DRC1):c.1123C>T (p.Arg375Cys) rs145305515 0.00006
NM_145038.5(DRC1):c.1238T>C (p.Ile413Thr) rs551640350 0.00006
NM_145038.5(DRC1):c.749C>T (p.Ala250Val) rs138374268 0.00006
NM_145038.5(DRC1):c.994G>C (p.Val332Leu) rs367682395 0.00006
NM_145038.5(DRC1):c.1226C>T (p.Ala409Val) rs754270018 0.00004
NM_145038.5(DRC1):c.1391G>A (p.Arg464His) rs200271366 0.00004
NM_145038.5(DRC1):c.1560G>C (p.Gln520His) rs1251505912 0.00004
NM_145038.5(DRC1):c.1599C>T (p.Ser533=) rs377416255 0.00004
NM_145038.5(DRC1):c.926A>G (p.Tyr309Cys) rs1395219877 0.00004
NM_145038.5(DRC1):c.1246G>A (p.Ala416Thr) rs779720693 0.00003
NM_145038.5(DRC1):c.1647C>G (p.Phe549Leu) rs371052653 0.00003
NM_145038.5(DRC1):c.2029T>C (p.Trp677Arg) rs765669218 0.00003
NM_145038.5(DRC1):c.2206C>T (p.Arg736Trp) rs373441736 0.00003
NM_145038.5(DRC1):c.1451C>T (p.Pro484Leu) rs149334724 0.00002
NM_145038.5(DRC1):c.14G>A (p.Gly5Glu) rs767420758 0.00002
NM_145038.5(DRC1):c.1639G>A (p.Val547Met) rs760306333 0.00002
NM_145038.5(DRC1):c.2126C>T (p.Thr709Ile) rs767091604 0.00002
NM_145038.5(DRC1):c.2207G>A (p.Arg736Gln) rs761603781 0.00002
NM_145038.5(DRC1):c.313G>A (p.Glu105Lys) rs759868480 0.00002
NM_145038.5(DRC1):c.697C>T (p.Arg233Cys) rs756180718 0.00002
NM_145038.5(DRC1):c.1082A>C (p.Gln361Pro) rs970137380 0.00001
NM_145038.5(DRC1):c.1304C>T (p.Pro435Leu) rs747835380 0.00001
NM_145038.5(DRC1):c.1348C>A (p.Pro450Thr) rs1214850546 0.00001
NM_145038.5(DRC1):c.1372G>A (p.Val458Ile) rs372422691 0.00001
NM_145038.5(DRC1):c.137G>T (p.Arg46Leu) rs745457802 0.00001
NM_145038.5(DRC1):c.1424C>T (p.Ala475Val) rs200155316 0.00001
NM_145038.5(DRC1):c.1508C>T (p.Ser503Leu) rs779688284 0.00001
NM_145038.5(DRC1):c.1540C>T (p.Leu514Phe) rs1663961136 0.00001
NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly) rs760087399 0.00001
NM_145038.5(DRC1):c.1739C>A (p.Thr580Lys) rs773007219 0.00001
NM_145038.5(DRC1):c.1892C>T (p.Ala631Val) rs751715818 0.00001
NM_145038.5(DRC1):c.1900A>G (p.Met634Val) rs1297970541 0.00001
NM_145038.5(DRC1):c.2045C>T (p.Thr682Ile) rs377090460 0.00001
NM_145038.5(DRC1):c.2056A>G (p.Lys686Glu) rs587776997 0.00001
NM_145038.5(DRC1):c.2099A>G (p.Glu700Gly) rs1347088566 0.00001
NM_145038.5(DRC1):c.460T>C (p.Trp154Arg) rs1167224672 0.00001
NM_145038.5(DRC1):c.463G>A (p.Glu155Lys) rs574881831 0.00001
NM_145038.5(DRC1):c.476C>T (p.Thr159Ile) rs368096684 0.00001
NM_145038.5(DRC1):c.528C>T (p.Ser176=) rs780717600 0.00001
NM_145038.5(DRC1):c.71C>A (p.Ala24Glu) rs770464153 0.00001
NM_145038.5(DRC1):c.74C>G (p.Pro25Arg) rs778586998 0.00001
NM_145038.5(DRC1):c.765+6G>A rs374715318 0.00001
NM_145038.5(DRC1):c.784C>T (p.Arg262Cys) rs748399379 0.00001
NM_145038.5(DRC1):c.7C>T (p.Pro3Ser) rs759091863 0.00001
NM_145038.5(DRC1):c.963G>T (p.Gln321His) rs747446719 0.00001
NM_145038.5(DRC1):c.1029-4C>G rs2148000514
NM_145038.5(DRC1):c.1066_1067delinsAT (p.Ala356Ile) rs1572379809
NM_145038.5(DRC1):c.1068_1069inv (p.Lys357Glu)
NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup) rs1678261374
NM_145038.5(DRC1):c.1090GAG[1] (p.Glu365del)
NM_145038.5(DRC1):c.1123C>A (p.Arg375Ser)
NM_145038.5(DRC1):c.1151A>C (p.Gln384Pro)
NM_145038.5(DRC1):c.115C>G (p.Arg39Gly) rs778388067
NM_145038.5(DRC1):c.1160T>G (p.Met387Arg)
NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)
NM_145038.5(DRC1):c.1188G>T (p.Glu396Asp)
NM_145038.5(DRC1):c.1195_1196inv (p.Trp399Gln)
NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys)
NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys)
NM_145038.5(DRC1):c.1263G>C (p.Arg421Ser) rs778963656
NM_145038.5(DRC1):c.1264A>G (p.Ile422Val)
NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu)
NM_145038.5(DRC1):c.1338T>G (p.Ile446Met)
NM_145038.5(DRC1):c.134C>T (p.Ala45Val) rs779282480
NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys)
NM_145038.5(DRC1):c.1369A>T (p.Ile457Leu)
NM_145038.5(DRC1):c.1418C>A (p.Ala473Asp) rs199574440
NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp)
NM_145038.5(DRC1):c.1448T>C (p.Leu483Ser) rs1663924677
NM_145038.5(DRC1):c.145G>T (p.Ala49Ser) rs771727269
NM_145038.5(DRC1):c.1487T>G (p.Leu496Arg) rs2148003720
NM_145038.5(DRC1):c.1503_1505del (p.Asp501del) rs778078856
NM_145038.5(DRC1):c.1511G>A (p.Gly504Glu) rs2148004449
NM_145038.5(DRC1):c.1511_1512delinsTA (p.Gly504Val) rs2148004453
NM_145038.5(DRC1):c.1524G>C (p.Glu508Asp) rs753664425
NM_145038.5(DRC1):c.155G>T (p.Arg52Leu)
NM_145038.5(DRC1):c.1612G>A (p.Glu538Lys)
NM_145038.5(DRC1):c.1631A>G (p.Tyr544Cys) rs775900881
NM_145038.5(DRC1):c.1643A>T (p.Asn548Ile)
NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys)
NM_145038.5(DRC1):c.1679C>T (p.Ser560Phe) rs1663980286
NM_145038.5(DRC1):c.169G>C (p.Glu57Gln)
NM_145038.5(DRC1):c.178G>A (p.Asp60Asn)
NM_145038.5(DRC1):c.1801A>C (p.Ser601Arg) rs1664059066
NM_145038.5(DRC1):c.1816_1818del (p.Glu606del)
NM_145038.5(DRC1):c.1825G>A (p.Glu609Lys) rs1664060049
NM_145038.5(DRC1):c.1841C>T (p.Pro614Leu) rs1664060879
NM_145038.5(DRC1):c.1849C>T (p.Pro617Ser) rs1664062937
NM_145038.5(DRC1):c.1873G>A (p.Val625Ile)
NM_145038.5(DRC1):c.1897G>A (p.Val633Ile) rs12623642
NM_145038.5(DRC1):c.1919G>A (p.Arg640Lys)
NM_145038.5(DRC1):c.1946A>C (p.Gln649Pro)
NM_145038.5(DRC1):c.1955T>G (p.Val652Gly) rs752777750
NM_145038.5(DRC1):c.1967C>T (p.Ser656Phe) rs2148007712
NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro)
NM_145038.5(DRC1):c.2044A>G (p.Thr682Ala)
NM_145038.5(DRC1):c.2068G>A (p.Val690Ile) rs1553345147
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs) rs1558457993
NM_145038.5(DRC1):c.2081G>C (p.Arg694Thr) rs372797665
NM_145038.5(DRC1):c.2102A>G (p.Asn701Ser)
NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter) rs763706980
NM_145038.5(DRC1):c.2140C>A (p.Leu714Ile) rs1572389551
NM_145038.5(DRC1):c.2183A>T (p.Gln728Leu) rs2148010186
NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys)
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) rs763631774
NM_145038.5(DRC1):c.220A>C (p.Lys74Gln) rs776739782
NM_145038.5(DRC1):c.237C>A (p.Ser79Arg)
NM_145038.5(DRC1):c.239G>A (p.Arg80Gln) rs148643291
NM_145038.5(DRC1):c.308T>C (p.Ile103Thr)
NM_145038.5(DRC1):c.320A>G (p.His107Arg) rs1663137062
NM_145038.5(DRC1):c.356+3A>G rs1572361252
NM_145038.5(DRC1):c.379G>T (p.Val127Phe) rs1199545365
NM_145038.5(DRC1):c.396C>A (p.Asp132Glu) rs770549722
NM_145038.5(DRC1):c.39C>A (p.Asn13Lys) rs757114521
NM_145038.5(DRC1):c.409A>G (p.Ile137Val) rs1333711600
NM_145038.5(DRC1):c.418A>C (p.Lys140Gln) rs201245045
NM_145038.5(DRC1):c.46G>A (p.Glu16Lys)
NM_145038.5(DRC1):c.479A>C (p.Gln160Pro) rs762794275
NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val) rs1572363707
NM_145038.5(DRC1):c.513_515del (p.Lys171del) rs773138367
NM_145038.5(DRC1):c.56C>T (p.Ser19Phe)
NM_145038.5(DRC1):c.5A>T (p.Asn2Ile)
NM_145038.5(DRC1):c.616C>T (p.Arg206Trp) rs1160786100
NM_145038.5(DRC1):c.674T>A (p.Ile225Asn)
NM_145038.5(DRC1):c.686T>C (p.Phe229Ser) rs2147991541
NM_145038.5(DRC1):c.698G>A (p.Arg233His)
NM_145038.5(DRC1):c.712G>T (p.Ala238Ser) rs1663414723
NM_145038.5(DRC1):c.77C>G (p.Ser26Trp) rs745542616
NM_145038.5(DRC1):c.785G>A (p.Arg262His)
NM_145038.5(DRC1):c.793A>C (p.Lys265Gln)
NM_145038.5(DRC1):c.985G>A (p.Glu329Lys) rs1060501406

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