ClinVar Miner

List of variants in gene CDK5RAP2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu) rs138510304 0.00063
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_018249.6(CDK5RAP2):c.2602C>G (p.Leu868Val) rs142340223 0.00047
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00043
NM_018249.6(CDK5RAP2):c.2939C>T (p.Thr980Ile) rs145948550 0.00042
NM_018249.6(CDK5RAP2):c.4626G>T (p.Leu1542Phe) rs141563261 0.00039
NM_018249.6(CDK5RAP2):c.2636A>G (p.Glu879Gly) rs199766241 0.00034
NM_018249.6(CDK5RAP2):c.5584G>A (p.Val1862Ile) rs147082653 0.00033
NM_018249.6(CDK5RAP2):c.1072G>A (p.Ala358Thr) rs138995980 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.703G>A (p.Ala235Thr) rs142783338 0.00025
NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser) rs148403620 0.00024
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.4297+5G>A rs201798027 0.00020
NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu) rs189396476 0.00019
NM_018249.6(CDK5RAP2):c.3002C>T (p.Thr1001Met) rs145293519 0.00017
NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys) rs140513883 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) rs369568564 0.00008
NM_018249.6(CDK5RAP2):c.2641G>A (p.Asp881Asn) rs766761953 0.00007
NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr) rs139143441 0.00007
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_018249.6(CDK5RAP2):c.4235C>A (p.Ser1412Tyr) rs201387927 0.00007
NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln) rs200650108 0.00007
NM_018249.6(CDK5RAP2):c.1280G>A (p.Arg427Gln) rs141387242 0.00006
NM_018249.6(CDK5RAP2):c.3265T>C (p.Ser1089Pro) rs138526640 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018249.6(CDK5RAP2):c.104C>G (p.Pro35Arg) rs369355023 0.00004
NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln) rs749612238 0.00004
NM_018249.6(CDK5RAP2):c.1A>G (p.Met1Val) rs375556534 0.00004
NM_018249.6(CDK5RAP2):c.2792G>A (p.Arg931Lys) rs373118539 0.00004
NM_018249.6(CDK5RAP2):c.3770G>A (p.Arg1257Gln) rs777532975 0.00004
NM_018249.6(CDK5RAP2):c.3953A>G (p.Asn1318Ser) rs764546841 0.00004
NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val) rs201864352 0.00004
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu) rs777175354 0.00004
NM_018249.6(CDK5RAP2):c.5354C>T (p.Thr1785Met) rs751971032 0.00004
NM_018249.6(CDK5RAP2):c.4211C>A (p.Thr1404Asn) rs886063394 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_018249.6(CDK5RAP2):c.5373A>C (p.Glu1791Asp) rs774322006 0.00003
NM_018249.6(CDK5RAP2):c.619G>A (p.Glu207Lys) rs756502330 0.00003
NM_018249.6(CDK5RAP2):c.1145C>T (p.Ala382Val) rs751126483 0.00002
NM_018249.6(CDK5RAP2):c.1340G>A (p.Arg447His) rs777203757 0.00002
NM_018249.6(CDK5RAP2):c.2714C>T (p.Ala905Val) rs750689530 0.00002
NM_018249.6(CDK5RAP2):c.3174C>A (p.Asp1058Glu) rs143639333 0.00002
NM_018249.6(CDK5RAP2):c.5222T>C (p.Ile1741Thr) rs754398195 0.00002
NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala) rs587783382 0.00001
NM_018249.6(CDK5RAP2):c.2720A>T (p.His907Leu) rs766506183 0.00001
NM_018249.6(CDK5RAP2):c.344G>A (p.Arg115Gln) rs772364241 0.00001
NM_018249.6(CDK5RAP2):c.3662T>C (p.Met1221Thr) rs1085307850 0.00001
NM_018249.6(CDK5RAP2):c.3997A>C (p.Met1333Leu) rs2034639358 0.00001
NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys) rs768629906 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.632C>T (p.Ala211Val) rs1266143749 0.00001
NM_018249.6(CDK5RAP2):c.640C>G (p.Leu214Val) rs749992541 0.00001
GRCh37/hg19 9q33.2(chr9:123227720-123284486)x1
GRCh37/hg19 9q33.2(chr9:123292273-123314123)x1
NM_018249.6(CDK5RAP2):c.1021A>G (p.Ile341Val)
NM_018249.6(CDK5RAP2):c.1097C>A (p.Ser366Tyr)
NM_018249.6(CDK5RAP2):c.1106A>G (p.Tyr369Cys)
NM_018249.6(CDK5RAP2):c.1111A>G (p.Thr371Ala)
NM_018249.6(CDK5RAP2):c.1151G>A (p.Arg384His)
NM_018249.6(CDK5RAP2):c.1199G>A (p.Ser400Asn)
NM_018249.6(CDK5RAP2):c.127+4_127+7del
NM_018249.6(CDK5RAP2):c.1292A>G (p.Lys431Arg)
NM_018249.6(CDK5RAP2):c.1309C>T (p.Arg437Cys)
NM_018249.6(CDK5RAP2):c.1339C>T (p.Arg447Cys)
NM_018249.6(CDK5RAP2):c.1378C>T (p.Arg460Cys)
NM_018249.6(CDK5RAP2):c.1421A>G (p.Asn474Ser)
NM_018249.6(CDK5RAP2):c.1427A>G (p.Glu476Gly) rs2038897037
NM_018249.6(CDK5RAP2):c.1471G>C (p.Val491Leu)
NM_018249.6(CDK5RAP2):c.1498G>C (p.Asp500His)
NM_018249.6(CDK5RAP2):c.1550A>T (p.Glu517Val)
NM_018249.6(CDK5RAP2):c.1649A>G (p.Tyr550Cys)
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu) rs2131564281
NM_018249.6(CDK5RAP2):c.1709C>A (p.Ser570Tyr)
NM_018249.6(CDK5RAP2):c.1727+6C>G
NM_018249.6(CDK5RAP2):c.172C>T (p.Arg58Trp)
NM_018249.6(CDK5RAP2):c.173G>A (p.Arg58Gln)
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
NM_018249.6(CDK5RAP2):c.1846C>T (p.Arg616Trp)
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
NM_018249.6(CDK5RAP2):c.1862A>C (p.Glu621Ala)
NM_018249.6(CDK5RAP2):c.1873C>T (p.Leu625Phe)
NM_018249.6(CDK5RAP2):c.1895A>G (p.Tyr632Cys)
NM_018249.6(CDK5RAP2):c.1922A>G (p.Asn641Ser)
NM_018249.6(CDK5RAP2):c.1924C>T (p.Arg642Trp)
NM_018249.6(CDK5RAP2):c.2059C>A (p.Gln687Lys)
NM_018249.6(CDK5RAP2):c.2102C>T (p.Thr701Ile)
NM_018249.6(CDK5RAP2):c.2203-2A>T
NM_018249.6(CDK5RAP2):c.2231G>A (p.Cys744Tyr)
NM_018249.6(CDK5RAP2):c.2258A>G (p.Glu753Gly)
NM_018249.6(CDK5RAP2):c.2270C>T (p.Ser757Leu)
NM_018249.6(CDK5RAP2):c.2290G>A (p.Ala764Thr)
NM_018249.6(CDK5RAP2):c.2376G>T (p.Arg792Ser)
NM_018249.6(CDK5RAP2):c.2398C>T (p.Arg800Trp)
NM_018249.6(CDK5RAP2):c.2399G>A (p.Arg800Gln)
NM_018249.6(CDK5RAP2):c.245A>G (p.Tyr82Cys)
NM_018249.6(CDK5RAP2):c.2561A>C (p.Glu854Ala)
NM_018249.6(CDK5RAP2):c.2611G>A (p.Ala871Thr)
NM_018249.6(CDK5RAP2):c.2648T>G (p.Leu883Arg)
NM_018249.6(CDK5RAP2):c.2722C>T (p.Arg908Trp)
NM_018249.6(CDK5RAP2):c.2818A>C (p.Ile940Leu)
NM_018249.6(CDK5RAP2):c.2834C>T (p.Ser945Phe)
NM_018249.6(CDK5RAP2):c.2836C>T (p.Arg946Trp)
NM_018249.6(CDK5RAP2):c.2837G>A (p.Arg946Gln)
NM_018249.6(CDK5RAP2):c.2852T>C (p.Met951Thr)
NM_018249.6(CDK5RAP2):c.2992G>A (p.Gly998Arg)
NM_018249.6(CDK5RAP2):c.3004C>G (p.Pro1002Ala)
NM_018249.6(CDK5RAP2):c.3069G>C (p.Glu1023Asp)
NM_018249.6(CDK5RAP2):c.3144G>T (p.Glu1048Asp)
NM_018249.6(CDK5RAP2):c.3148+17del
NM_018249.6(CDK5RAP2):c.3148+5G>C
NM_018249.6(CDK5RAP2):c.3150C>G (p.Asp1050Glu)
NM_018249.6(CDK5RAP2):c.3194G>A (p.Cys1065Tyr)
NM_018249.6(CDK5RAP2):c.3249T>A (p.Ser1083Arg)
NM_018249.6(CDK5RAP2):c.3538G>A (p.Val1180Met)
NM_018249.6(CDK5RAP2):c.3578T>G (p.Met1193Arg)
NM_018249.6(CDK5RAP2):c.3580A>G (p.Ile1194Val)
NM_018249.6(CDK5RAP2):c.3635A>T (p.Lys1212Met)
NM_018249.6(CDK5RAP2):c.3688C>G (p.Leu1230Val)
NM_018249.6(CDK5RAP2):c.3723-8T>C rs1554743047
NM_018249.6(CDK5RAP2):c.373A>T (p.Ile125Phe)
NM_018249.6(CDK5RAP2):c.374T>C (p.Ile125Thr)
NM_018249.6(CDK5RAP2):c.37C>T (p.Pro13Ser)
NM_018249.6(CDK5RAP2):c.3812G>A (p.Arg1271His)
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
NM_018249.6(CDK5RAP2):c.3955+20C>T
NM_018249.6(CDK5RAP2):c.4005-3A>G
NM_018249.6(CDK5RAP2):c.4105T>C (p.Phe1369Leu)
NM_018249.6(CDK5RAP2):c.410C>T (p.Ala137Val)
NM_018249.6(CDK5RAP2):c.4129G>A (p.Asp1377Asn)
NM_018249.6(CDK5RAP2):c.4156A>G (p.Met1386Val)
NM_018249.6(CDK5RAP2):c.4207C>G (p.Arg1403Gly)
NM_018249.6(CDK5RAP2):c.4208G>A (p.Arg1403Gln)
NM_018249.6(CDK5RAP2):c.4222C>T (p.Arg1408Cys) rs151259479
NM_018249.6(CDK5RAP2):c.4237A>G (p.Ile1413Val)
NM_018249.6(CDK5RAP2):c.4273C>T (p.Arg1425Trp)
NM_018249.6(CDK5RAP2):c.4279G>A (p.Gly1427Arg)
NM_018249.6(CDK5RAP2):c.4295A>G (p.Gln1432Arg)
NM_018249.6(CDK5RAP2):c.4306A>G (p.Ser1436Gly) rs1316940946
NM_018249.6(CDK5RAP2):c.430C>T (p.Arg144Trp) rs763240159
NM_018249.6(CDK5RAP2):c.431G>A (p.Arg144Gln)
NM_018249.6(CDK5RAP2):c.4442G>A (p.Arg1481Gln)
NM_018249.6(CDK5RAP2):c.4487G>A (p.Arg1496Gln)
NM_018249.6(CDK5RAP2):c.4501G>A (p.Val1501Met)
NM_018249.6(CDK5RAP2):c.459G>A (p.Val153=) rs1085307847
NM_018249.6(CDK5RAP2):c.4605-3C>G
NM_018249.6(CDK5RAP2):c.4618G>T (p.Val1540Leu)
NM_018249.6(CDK5RAP2):c.4726+5T>A
NM_018249.6(CDK5RAP2):c.472G>A (p.Asp158Asn) rs2131981616
NM_018249.6(CDK5RAP2):c.4757A>G (p.Asp1586Gly)
NM_018249.6(CDK5RAP2):c.47T>C (p.Leu16Pro)
NM_018249.6(CDK5RAP2):c.4805G>A (p.Arg1602His)
NM_018249.6(CDK5RAP2):c.485A>G (p.Lys162Arg)
NM_018249.6(CDK5RAP2):c.4945C>T (p.Leu1649Phe)
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
NM_018249.6(CDK5RAP2):c.5120C>T (p.Pro1707Leu)
NM_018249.6(CDK5RAP2):c.5126T>C (p.Val1709Ala)
NM_018249.6(CDK5RAP2):c.512T>A (p.Val171Glu)
NM_018249.6(CDK5RAP2):c.5131C>T (p.Arg1711Cys)
NM_018249.6(CDK5RAP2):c.5143G>A (p.Gly1715Ser)
NM_018249.6(CDK5RAP2):c.5174G>T (p.Arg1725Leu)
NM_018249.6(CDK5RAP2):c.5177A>G (p.His1726Arg)
NM_018249.6(CDK5RAP2):c.518C>T (p.Ala173Val)
NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)
NM_018249.6(CDK5RAP2):c.5257A>G (p.Ile1753Val)
NM_018249.6(CDK5RAP2):c.5307+6C>T
NM_018249.6(CDK5RAP2):c.530A>T (p.Glu177Val)
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.5452-30_5452-3del
NM_018249.6(CDK5RAP2):c.5513A>C (p.Lys1838Thr)
NM_018249.6(CDK5RAP2):c.5566A>G (p.Ile1856Val)
NM_018249.6(CDK5RAP2):c.5603G>T (p.Arg1868Leu)
NM_018249.6(CDK5RAP2):c.560C>T (p.Thr187Met)
NM_018249.6(CDK5RAP2):c.589A>G (p.Ser197Gly)
NM_018249.6(CDK5RAP2):c.857A>G (p.Asn286Ser)
NM_018249.6(CDK5RAP2):c.946A>G (p.Arg316Gly) rs751915140
NM_018249.6(CDK5RAP2):c.976G>T (p.Ala326Ser)

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