ClinVar Miner

List of variants in gene DNAAF5 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00208
NM_017802.4(DNAAF5):c.1931+8C>T rs145254596 0.00135
NM_017802.4(DNAAF5):c.1783+10C>T rs189816059 0.00134
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys) rs61755909 0.00101
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val) rs75829847 0.00071
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile) rs138915052 0.00063
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=) rs139675128 0.00035
NM_017802.4(DNAAF5):c.1325C>T (p.Ser442Leu) rs146938307 0.00035
NM_017802.4(DNAAF5):c.933C>T (p.Asp311=) rs139879811 0.00031
NM_017802.4(DNAAF5):c.1471-12G>A rs370817681 0.00025
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=) rs149101412 0.00021
NM_017802.4(DNAAF5):c.1783+7C>T rs748320384 0.00019
NM_017802.4(DNAAF5):c.2200G>A (p.Gly734Ser) rs191515363 0.00019
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp) rs143045012 0.00018
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=) rs758280553 0.00016
NM_017802.4(DNAAF5):c.2196G>A (p.Ser732=) rs374069664 0.00014
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr) rs141828030 0.00013
NM_017802.4(DNAAF5):c.1812C>T (p.His604=) rs190772196 0.00013
NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=) rs199992201 0.00013
NM_017802.4(DNAAF5):c.1383G>T (p.Arg461=) rs370779107 0.00012
NM_017802.4(DNAAF5):c.2490C>T (p.Ala830=) rs774657675 0.00011
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile) rs145938269 0.00010
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=) rs368936903 0.00010
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=) rs142939429 0.00010
NM_017802.4(DNAAF5):c.2142G>A (p.Ser714=) rs113450580 0.00008
NM_017802.4(DNAAF5):c.735C>T (p.Asp245=) rs766158599 0.00007
NM_017802.4(DNAAF5):c.1258-7C>A rs1181940614 0.00006
NM_017802.4(DNAAF5):c.781-5C>T rs756800404 0.00006
NM_017802.4(DNAAF5):c.1950C>G (p.Leu650=) rs755182384 0.00005
NM_017802.4(DNAAF5):c.2239+8A>G rs202087864 0.00005
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=) rs772910548 0.00005
NM_017802.4(DNAAF5):c.732C>T (p.Asp244=) rs751760178 0.00005
NM_017802.4(DNAAF5):c.1230C>T (p.Thr410=) rs779072395 0.00004
NM_017802.4(DNAAF5):c.1341G>A (p.Thr447=) rs200587511 0.00004
NM_017802.4(DNAAF5):c.1783+8G>A rs758632496 0.00004
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=) rs751078064 0.00004
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=) rs777084727 0.00004
NM_017802.4(DNAAF5):c.678C>T (p.Ala226=) rs563294364 0.00004
NM_017802.4(DNAAF5):c.1025-7G>A rs748574039 0.00003
NM_017802.4(DNAAF5):c.1083C>T (p.Leu361=) rs139756611 0.00003
NM_017802.4(DNAAF5):c.1911G>A (p.Thr637=) rs140229424 0.00003
NM_017802.4(DNAAF5):c.2289C>T (p.Ala763=) rs749017071 0.00003
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=) rs146751534 0.00003
NM_017802.4(DNAAF5):c.1024+13G>A rs773831457 0.00002
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=) rs139756611 0.00002
NM_017802.4(DNAAF5):c.1281C>T (p.Val427=) rs749052581 0.00002
NM_017802.4(DNAAF5):c.1410G>A (p.Pro470=) rs202182894 0.00002
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=) rs368538461 0.00002
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=) rs754316026 0.00002
NM_017802.4(DNAAF5):c.1932-19C>T rs762597761 0.00002
NM_017802.4(DNAAF5):c.2475G>A (p.Val825=) rs762526450 0.00002
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=) rs370588837 0.00002
NM_017802.4(DNAAF5):c.2535G>A (p.Leu845=) rs1326859026 0.00002
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=) rs566588440 0.00001
NM_017802.4(DNAAF5):c.1098C>T (p.His366=) rs142951273 0.00001
NM_017802.4(DNAAF5):c.1128A>C (p.Arg376=) rs753803162 0.00001
NM_017802.4(DNAAF5):c.1137G>A (p.Ser379=) rs764842852 0.00001
NM_017802.4(DNAAF5):c.1179C>T (p.His393=) rs537994269 0.00001
NM_017802.4(DNAAF5):c.1296C>T (p.Ser432=) rs747756453 0.00001
NM_017802.4(DNAAF5):c.1374C>T (p.Ser458=) rs150926878 0.00001
NM_017802.4(DNAAF5):c.1389C>T (p.Cys463=) rs376550852 0.00001
NM_017802.4(DNAAF5):c.1471-14C>G rs765928517 0.00001
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=) rs771906023 0.00001
NM_017802.4(DNAAF5):c.1743G>A (p.Ser581=) rs1232523161 0.00001
NM_017802.4(DNAAF5):c.1797A>T (p.Gly599=) rs376945935 0.00001
NM_017802.4(DNAAF5):c.2511G>A (p.Ser837=) rs143524894 0.00001
NM_017802.4(DNAAF5):c.781-8A>G rs570735854 0.00001
NM_017802.4(DNAAF5):c.781-9C>T rs899682066 0.00001
NM_017802.4(DNAAF5):c.905+18C>T rs772079587 0.00001
NM_017802.4(DNAAF5):c.1024+10C>A
NM_017802.4(DNAAF5):c.1024+10C>T rs375071932
NM_017802.4(DNAAF5):c.1024+11G>A
NM_017802.4(DNAAF5):c.1024+12C>A
NM_017802.4(DNAAF5):c.1024+19G>A
NM_017802.4(DNAAF5):c.1025-14C>T
NM_017802.4(DNAAF5):c.1025-7G>C
NM_017802.4(DNAAF5):c.1025-8C>T
NM_017802.4(DNAAF5):c.1050G>T (p.Arg350=)
NM_017802.4(DNAAF5):c.1092G>C (p.Leu364=)
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
NM_017802.4(DNAAF5):c.1155G>A (p.Val385=)
NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)
NM_017802.4(DNAAF5):c.1200C>T (p.Val400=)
NM_017802.4(DNAAF5):c.1257+16C>G
NM_017802.4(DNAAF5):c.1258-11C>T
NM_017802.4(DNAAF5):c.1258-17A>G
NM_017802.4(DNAAF5):c.1258-4G>A rs202056316
NM_017802.4(DNAAF5):c.1258-4G>T
NM_017802.4(DNAAF5):c.1263C>T (p.Thr421=)
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
NM_017802.4(DNAAF5):c.1290T>C (p.Phe430=) rs2128078886
NM_017802.4(DNAAF5):c.1326G>A (p.Ser442=)
NM_017802.4(DNAAF5):c.1350C>G (p.Ala450=) rs2128078908
NM_017802.4(DNAAF5):c.1353C>T (p.Ser451=)
NM_017802.4(DNAAF5):c.1437G>A (p.Leu479=) rs2128078963
NM_017802.4(DNAAF5):c.1470+12T>G rs2128078986
NM_017802.4(DNAAF5):c.1470+9A>G
NM_017802.4(DNAAF5):c.1471-7C>T
NM_017802.4(DNAAF5):c.1488C>T (p.Arg496=)
NM_017802.4(DNAAF5):c.1497G>A (p.Leu499=)
NM_017802.4(DNAAF5):c.1515G>A (p.Val505=)
NM_017802.4(DNAAF5):c.1518T>C (p.Ser506=)
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=)
NM_017802.4(DNAAF5):c.1575A>C (p.Thr525=) rs754710920
NM_017802.4(DNAAF5):c.1614+13G>A
NM_017802.4(DNAAF5):c.1635A>G (p.Ser545=)
NM_017802.4(DNAAF5):c.1641C>T (p.Ala547=)
NM_017802.4(DNAAF5):c.1704G>A (p.Glu568=) rs2128081094
NM_017802.4(DNAAF5):c.1706G>A (p.Arg569Gln)
NM_017802.4(DNAAF5):c.1716G>A (p.Ala572=) rs778984123
NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)
NM_017802.4(DNAAF5):c.1734C>T (p.Thr578=) rs201710687
NM_017802.4(DNAAF5):c.1773C>A (p.Val591=) rs185154075
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
NM_017802.4(DNAAF5):c.1783+12C>G
NM_017802.4(DNAAF5):c.1783+13G>T rs201316573
NM_017802.4(DNAAF5):c.1784-14G>A
NM_017802.4(DNAAF5):c.1784-14_1784-13del rs754684802
NM_017802.4(DNAAF5):c.1784-19C>T
NM_017802.4(DNAAF5):c.1785C>A (p.Gly595=)
NM_017802.4(DNAAF5):c.1791C>T (p.Ala597=)
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=)
NM_017802.4(DNAAF5):c.1824G>A (p.Thr608=)
NM_017802.4(DNAAF5):c.1839G>A (p.Leu613=) rs751508824
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=)
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=)
NM_017802.4(DNAAF5):c.1885C>T (p.Leu629=)
NM_017802.4(DNAAF5):c.1931+9G>A
NM_017802.4(DNAAF5):c.1932-14C>T
NM_017802.4(DNAAF5):c.1932-15C>T
NM_017802.4(DNAAF5):c.1932-16_1932-15del
NM_017802.4(DNAAF5):c.1932-20C>T
NM_017802.4(DNAAF5):c.1932-9C>T
NM_017802.4(DNAAF5):c.1956G>A (p.Thr652=)
NM_017802.4(DNAAF5):c.1959G>A (p.Val653=) rs1583517339
NM_017802.4(DNAAF5):c.1965G>A (p.Lys655=)
NM_017802.4(DNAAF5):c.1977C>G (p.Ala659=)
NM_017802.4(DNAAF5):c.2016C>A (p.Ala672=)
NM_017802.4(DNAAF5):c.2028T>C (p.Ala676=) rs1583517485
NM_017802.4(DNAAF5):c.2031C>T (p.Ala677=)
NM_017802.4(DNAAF5):c.2067C>T (p.Val689=)
NM_017802.4(DNAAF5):c.2083-17G>A
NM_017802.4(DNAAF5):c.2119C>T (p.Leu707=)
NM_017802.4(DNAAF5):c.2128C>T (p.Leu710=)
NM_017802.4(DNAAF5):c.2151G>A (p.Thr717=)
NM_017802.4(DNAAF5):c.2151G>C (p.Thr717=)
NM_017802.4(DNAAF5):c.2172T>C (p.Ile724=)
NM_017802.4(DNAAF5):c.2178C>T (p.Asn726=)
NM_017802.4(DNAAF5):c.2181G>A (p.Thr727=) rs746205271
NM_017802.4(DNAAF5):c.2208G>A (p.Thr736=)
NM_017802.4(DNAAF5):c.2217G>A (p.Glu739=)
NM_017802.4(DNAAF5):c.2240-18C>T
NM_017802.4(DNAAF5):c.2370G>A (p.Leu790=)
NM_017802.4(DNAAF5):c.2373C>T (p.Tyr791=)
NM_017802.4(DNAAF5):c.2385G>A (p.Leu795=) rs112210659
NM_017802.4(DNAAF5):c.2397C>T (p.Asp799=)
NM_017802.4(DNAAF5):c.2431+10C>T
NM_017802.4(DNAAF5):c.2431+11G>A
NM_017802.4(DNAAF5):c.2431+19G>A
NM_017802.4(DNAAF5):c.2541T>C (p.His847=)
NM_017802.4(DNAAF5):c.596-11C>G
NM_017802.4(DNAAF5):c.596-17G>A rs886038638
NM_017802.4(DNAAF5):c.596-19G>A
NM_017802.4(DNAAF5):c.596-5C>T
NM_017802.4(DNAAF5):c.615G>A (p.Ser205=)
NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)
NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)
NM_017802.4(DNAAF5):c.630G>T (p.Gly210=)
NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)
NM_017802.4(DNAAF5):c.699A>G (p.Ala233=) rs1781504659
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)
NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=) rs146014916
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)
NM_017802.4(DNAAF5):c.780+10G>T
NM_017802.4(DNAAF5):c.780+14C>T
NM_017802.4(DNAAF5):c.781-4G>A
NM_017802.4(DNAAF5):c.781-5del
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln) rs201059622
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)
NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)
NM_017802.4(DNAAF5):c.804G>A (p.Val268=)
NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)
NM_017802.4(DNAAF5):c.819G>A (p.Leu273=) rs2128072827
NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)
NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)
NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)
NM_017802.4(DNAAF5):c.903C>G (p.Val301=) rs2128072874
NM_017802.4(DNAAF5):c.905+14C>T
NM_017802.4(DNAAF5):c.905+19G>A
NM_017802.4(DNAAF5):c.905+7G>A
NM_017802.4(DNAAF5):c.906-14_906-11del rs1444250614
NM_017802.4(DNAAF5):c.906-5C>T rs770784779

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