ClinVar Miner

List of variants in gene DRC1 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile) rs143181834 0.00771
NM_145038.5(DRC1):c.1824G>A (p.Glu608=) rs1402962 0.00567
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) rs151184011 0.00149
NM_145038.5(DRC1):c.2021A>T (p.Gln674Leu) rs202097155 0.00123
NM_145038.5(DRC1):c.2166+6C>T rs201547851 0.00108
NM_145038.5(DRC1):c.1093G>A (p.Glu365Lys) rs35094910 0.00082
NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser) rs145400360 0.00069
NM_145038.5(DRC1):c.1510-6C>A rs201815519 0.00053
NM_145038.5(DRC1):c.402C>T (p.Phe134=) rs200560247 0.00038
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_145038.5(DRC1):c.2076C>T (p.Thr692=) rs141191674 0.00031
NM_145038.5(DRC1):c.990C>T (p.Ser330=) rs149344139 0.00024
NM_145038.5(DRC1):c.2139G>A (p.Ala713=) rs139421793 0.00022
NM_145038.5(DRC1):c.2166+9C>T rs373951532 0.00017
NM_145038.5(DRC1):c.1926G>A (p.Ser642=) rs144870659 0.00016
NM_145038.5(DRC1):c.1974C>G (p.Asp658Glu) rs140913454 0.00016
NM_145038.5(DRC1):c.1725G>A (p.Ala575=) rs776929224 0.00014
NM_145038.5(DRC1):c.675T>C (p.Ile225=) rs149032953 0.00014
NM_145038.5(DRC1):c.1724C>T (p.Ala575Val) rs149284367 0.00013
NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu) rs188055173 0.00012
NM_145038.5(DRC1):c.1124G>A (p.Arg375His) rs141347582 0.00011
NM_145038.5(DRC1):c.1425G>A (p.Ala475=) rs150563278 0.00007
NM_145038.5(DRC1):c.155+11G>A rs773150423 0.00007
NM_145038.5(DRC1):c.1509+17G>A rs377178663 0.00006
NM_145038.5(DRC1):c.330C>T (p.Val110=) rs146060843 0.00006
NM_145038.5(DRC1):c.655C>T (p.Arg219Cys) rs577516330 0.00006
NM_145038.5(DRC1):c.679-4G>A rs762632039 0.00006
NM_145038.5(DRC1):c.15G>A (p.Gly5=) rs746939507 0.00005
NM_145038.5(DRC1):c.2167-5T>C rs560788801 0.00005
NM_145038.5(DRC1):c.57C>T (p.Ser19=) rs141160156 0.00005
NM_145038.5(DRC1):c.1422C>T (p.Ala474=) rs977739922 0.00004
NM_145038.5(DRC1):c.1600-7G>A rs780039487 0.00004
NM_145038.5(DRC1):c.1944A>G (p.Val648=) rs774615084 0.00004
NM_145038.5(DRC1):c.1503C>T (p.Asp501=) rs139876504 0.00003
NM_145038.5(DRC1):c.1605T>C (p.Leu535=) rs773501166 0.00003
NM_145038.5(DRC1):c.191A>G (p.Glu64Gly) rs138917435 0.00003
NM_145038.5(DRC1):c.1935G>A (p.Pro645=) rs561986345 0.00003
NM_145038.5(DRC1):c.2097G>A (p.Leu699=) rs200604106 0.00003
NM_145038.5(DRC1):c.1028+20G>A rs766939128 0.00002
NM_145038.5(DRC1):c.1776G>A (p.Thr592=) rs750675673 0.00002
NM_145038.5(DRC1):c.1977G>A (p.Ser659=) rs368854171 0.00002
NM_145038.5(DRC1):c.561C>T (p.Asp187=) rs147573624 0.00002
NM_145038.5(DRC1):c.87C>T (p.Ser29=) rs768704103 0.00002
NM_145038.5(DRC1):c.1919+10G>A rs775449578 0.00001
NM_145038.5(DRC1):c.2058G>A (p.Lys686=) rs1386352972 0.00001
NM_145038.5(DRC1):c.2064-8G>A rs1012672985 0.00001
NM_145038.5(DRC1):c.2069T>C (p.Val690Ala) rs199858918 0.00001
NM_145038.5(DRC1):c.356+8C>T rs749365742 0.00001
NM_145038.5(DRC1):c.501C>T (p.Leu167=) rs778849420 0.00001
NM_145038.5(DRC1):c.684A>G (p.Ala228=) rs751246954 0.00001
NM_145038.5(DRC1):c.843C>T (p.Cys281=) rs371207623 0.00001
NM_145038.5(DRC1):c.972G>A (p.Lys324=) rs1663689812 0.00001
NM_145038.5(DRC1):c.1008G>A (p.Gln336=)
NM_145038.5(DRC1):c.1028+10C>A rs1663692485
NM_145038.5(DRC1):c.1028+10C>G rs1663692485
NM_145038.5(DRC1):c.1028+12T>C
NM_145038.5(DRC1):c.1028+18G>A
NM_145038.5(DRC1):c.1028+19C>T
NM_145038.5(DRC1):c.1029-4C>T
NM_145038.5(DRC1):c.1029-7C>T
NM_145038.5(DRC1):c.1110C>G (p.Thr370=)
NM_145038.5(DRC1):c.1163+10G>A
NM_145038.5(DRC1):c.1163+15T>C
NM_145038.5(DRC1):c.1164-19C>G
NM_145038.5(DRC1):c.1164-9C>T
NM_145038.5(DRC1):c.1207C>T (p.Leu403=)
NM_145038.5(DRC1):c.1221G>A (p.Glu407=)
NM_145038.5(DRC1):c.1263G>A (p.Arg421=) rs778963656
NM_145038.5(DRC1):c.1281T>C (p.His427=) rs528460521
NM_145038.5(DRC1):c.1284G>A (p.Leu428=)
NM_145038.5(DRC1):c.1329T>C (p.Val443=)
NM_145038.5(DRC1):c.1350C>T (p.Pro450=)
NM_145038.5(DRC1):c.1392C>T (p.Arg464=)
NM_145038.5(DRC1):c.1396+19T>A
NM_145038.5(DRC1):c.1397-11C>T
NM_145038.5(DRC1):c.1397-16_1397-15inv
NM_145038.5(DRC1):c.1397-20T>G
NM_145038.5(DRC1):c.1452G>A (p.Pro484=) rs1417232935
NM_145038.5(DRC1):c.1461T>C (p.Ile487=) rs1167700043
NM_145038.5(DRC1):c.1470A>G (p.Lys490=)
NM_145038.5(DRC1):c.1509+10G>A rs947858109
NM_145038.5(DRC1):c.1509+11G>A
NM_145038.5(DRC1):c.1509+13G>A
NM_145038.5(DRC1):c.1518C>T (p.Leu506=)
NM_145038.5(DRC1):c.155+12G>C
NM_145038.5(DRC1):c.156-7A>C
NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe)
NM_145038.5(DRC1):c.1599+11C>T
NM_145038.5(DRC1):c.1600-8C>T
NM_145038.5(DRC1):c.1620G>A (p.Glu540=)
NM_145038.5(DRC1):c.1650C>T (p.Phe550=)
NM_145038.5(DRC1):c.1689+11G>A
NM_145038.5(DRC1):c.1689+12T>G
NM_145038.5(DRC1):c.1689+20G>A rs1663981941
NM_145038.5(DRC1):c.1690-10C>T rs778847128
NM_145038.5(DRC1):c.1690-17C>G
NM_145038.5(DRC1):c.1690-17C>T
NM_145038.5(DRC1):c.1690-6C>T
NM_145038.5(DRC1):c.1720_1734del (p.Lys574_Glu578del) rs878855222
NM_145038.5(DRC1):c.174T>C (p.Tyr58=)
NM_145038.5(DRC1):c.1756T>C (p.Leu586=)
NM_145038.5(DRC1):c.1815G>A (p.Gly605=) rs748482443
NM_145038.5(DRC1):c.1839C>T (p.Thr613=)
NM_145038.5(DRC1):c.1887G>A (p.Leu629=)
NM_145038.5(DRC1):c.1919+7T>C
NM_145038.5(DRC1):c.1920-13T>C
NM_145038.5(DRC1):c.1920-14C>T
NM_145038.5(DRC1):c.1920-15G>A
NM_145038.5(DRC1):c.1920-20A>G
NM_145038.5(DRC1):c.1935G>C (p.Pro645=) rs561986345
NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys) rs139106371
NM_145038.5(DRC1):c.1965C>T (p.Asn655=) rs201930229
NM_145038.5(DRC1):c.1980G>A (p.Glu660=)
NM_145038.5(DRC1):c.2037C>A (p.Ala679=) rs759791684
NM_145038.5(DRC1):c.2049C>G (p.Ala683=)
NM_145038.5(DRC1):c.2064-10C>T
NM_145038.5(DRC1):c.2064-17G>A
NM_145038.5(DRC1):c.2064-18C>T
NM_145038.5(DRC1):c.2100A>G (p.Glu700=)
NM_145038.5(DRC1):c.2166+10G>T
NM_145038.5(DRC1):c.2166+11G>T
NM_145038.5(DRC1):c.2166+7G>A
NM_145038.5(DRC1):c.2167-13C>G
NM_145038.5(DRC1):c.2167-20T>A
NM_145038.5(DRC1):c.2172C>T (p.Asn724=)
NM_145038.5(DRC1):c.2202G>T (p.Val734=)
NM_145038.5(DRC1):c.243+10G>C
NM_145038.5(DRC1):c.243+9T>C rs1476611473
NM_145038.5(DRC1):c.244-14dup
NM_145038.5(DRC1):c.244-16A>G
NM_145038.5(DRC1):c.270C>T (p.Gly90=)
NM_145038.5(DRC1):c.300T>C (p.Ala100=)
NM_145038.5(DRC1):c.357-15T>A rs1188964676
NM_145038.5(DRC1):c.367C>T (p.Leu123=) rs1378377620
NM_145038.5(DRC1):c.411C>A (p.Ile137=)
NM_145038.5(DRC1):c.471C>T (p.Leu157=) rs1663228984
NM_145038.5(DRC1):c.495T>A (p.Ala165=) rs7423300
NM_145038.5(DRC1):c.537G>A (p.Gln179=) rs2147987459
NM_145038.5(DRC1):c.541-14A>G
NM_145038.5(DRC1):c.603C>T (p.Cys201=)
NM_145038.5(DRC1):c.660G>A (p.Glu220=)
NM_145038.5(DRC1):c.678+17A>G
NM_145038.5(DRC1):c.678+8G>A rs1558443964
NM_145038.5(DRC1):c.717T>C (p.Ser239=) rs772316882
NM_145038.5(DRC1):c.765+15C>T
NM_145038.5(DRC1):c.765+17G>A
NM_145038.5(DRC1):c.765+19C>G
NM_145038.5(DRC1):c.766-13C>T
NM_145038.5(DRC1):c.766-7C>T
NM_145038.5(DRC1):c.870G>A (p.Lys290=) rs765263654
NM_145038.5(DRC1):c.87C>G (p.Ser29=)
NM_145038.5(DRC1):c.889-15T>C
NM_145038.5(DRC1):c.918A>G (p.Lys306=)
NM_145038.5(DRC1):c.98A>G (p.Gln33Arg)
NM_145038.5(DRC1):c.996A>G (p.Val332=)
NM_145038.5(DRC1):c.9G>T (p.Pro3=) rs950686026

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