ClinVar Miner

List of variants in gene DNAAF11 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: 76
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HGVS dbSNP gnomAD frequency
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_012472.6(DNAAF11):c.1226+6A>G rs377220897 0.00116
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00081
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val) rs146067670 0.00053
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_012472.6(DNAAF11):c.836+18A>G rs201428444 0.00035
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00033
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) rs149894438 0.00032
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) rs143717300 0.00024
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.178+18G>A rs748179205 0.00019
NM_012472.6(DNAAF11):c.1141-18G>A rs191376365 0.00018
NM_012472.6(DNAAF11):c.369C>T (p.Asn123=) rs373347833 0.00013
NM_012472.6(DNAAF11):c.186T>C (p.Val62=) rs112144537 0.00008
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_012472.6(DNAAF11):c.250T>C (p.Leu84=) rs750250466 0.00004
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) rs199705053 0.00004
NM_012472.6(DNAAF11):c.831A>G (p.Lys277=) rs757347921 0.00004
NM_012472.6(DNAAF11):c.996C>A (p.Ile332=) rs750858514 0.00004
NM_012472.6(DNAAF11):c.1140+10G>A rs371118771 0.00003
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) rs915071476 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.654-20del rs777342714 0.00003
NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=) rs142575670 0.00002
NM_012472.6(DNAAF11):c.402C>T (p.Phe134=) rs978054244 0.00002
NM_012472.6(DNAAF11):c.837-10C>G rs771690684 0.00002
NM_012472.6(DNAAF11):c.915-19C>T rs200544802 0.00002
NM_012472.6(DNAAF11):c.1020C>T (p.Tyr340=) rs745624673 0.00001
NM_012472.6(DNAAF11):c.11-10T>C rs781574679 0.00001
NM_012472.6(DNAAF11):c.1284G>A (p.Val428=) rs1370395409 0.00001
NM_012472.6(DNAAF11):c.633C>T (p.Tyr211=) rs750603177 0.00001
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) rs774194116 0.00001
NM_012472.6(DNAAF11):c.10+12T>A
NM_012472.6(DNAAF11):c.10+7C>T
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=)
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)
NM_012472.6(DNAAF11):c.108A>G (p.Leu36=)
NM_012472.6(DNAAF11):c.1140+11T>A
NM_012472.6(DNAAF11):c.1141-7A>G
NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)
NM_012472.6(DNAAF11):c.1226+10T>A
NM_012472.6(DNAAF11):c.1226+17C>T
NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=)
NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=)
NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=)
NM_012472.6(DNAAF11):c.1386G>A (p.Val462=)
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=) rs768257025
NM_012472.6(DNAAF11):c.179-16T>G
NM_012472.6(DNAAF11):c.306G>A (p.Glu102=)
NM_012472.6(DNAAF11):c.372A>C (p.Pro124=)
NM_012472.6(DNAAF11):c.429+13T>A
NM_012472.6(DNAAF11):c.48C>T (p.Asn16=)
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.654-20G>T
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=) rs200925027
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) rs144399982
NM_012472.6(DNAAF11):c.726C>T (p.Asn242=)
NM_012472.6(DNAAF11):c.756G>A (p.Lys252=)
NM_012472.6(DNAAF11):c.81G>A (p.Ser27=)
NM_012472.6(DNAAF11):c.836+20G>A
NM_012472.6(DNAAF11):c.837-11C>A
NM_012472.6(DNAAF11):c.837-9A>G
NM_012472.6(DNAAF11):c.864C>T (p.Pro288=) rs2130273264
NM_012472.6(DNAAF11):c.873G>A (p.Leu291=) rs757257028
NM_012472.6(DNAAF11):c.914+18G>C rs2130271136
NM_012472.6(DNAAF11):c.915-11G>A
NM_012472.6(DNAAF11):c.939C>T (p.Asn313=)
NM_012472.6(DNAAF11):c.969C>G (p.Val323=)
NM_012472.6(DNAAF11):c.974+9A>G
NM_012472.6(DNAAF11):c.996C>T (p.Ile332=)

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