ClinVar Miner

List of variants in gene CDK5RAP2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_018249.6(CDK5RAP2):c.-159G>A rs554211842 0.00115
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.-172C>T rs781380022 0.00074
NM_018249.6(CDK5RAP2):c.1727+15C>G rs188328236 0.00071
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018249.6(CDK5RAP2):c.2939C>T (p.Thr980Ile) rs145948550 0.00042
NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=) rs139736411 0.00034
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=) rs199736016 0.00031
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.*47C>T rs371900717 0.00024
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.2376-11T>C rs374737473 0.00021
NM_018249.6(CDK5RAP2):c.3026-4G>A rs187715637 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.4165A>T (p.Ser1389Cys) rs200673172 0.00012
NM_018249.6(CDK5RAP2):c.1969-6T>C rs200495506 0.00011
NM_018249.6(CDK5RAP2):c.5121G>A (p.Pro1707=) rs748889605 0.00011
NM_018249.6(CDK5RAP2):c.1627-9C>A rs773227041 0.00010
NM_018249.6(CDK5RAP2):c.2645T>C (p.Leu882Pro) rs367620982 0.00010
NM_018249.6(CDK5RAP2):c.1192C>T (p.Arg398Cys) rs760516442 0.00009
NM_018249.6(CDK5RAP2):c.2793+13A>G rs185091392 0.00009
NM_018249.6(CDK5RAP2):c.3003G>A (p.Thr1001=) rs373365484 0.00009
NM_018249.6(CDK5RAP2):c.3361A>G (p.Thr1121Ala) rs201849065 0.00009
NM_018249.6(CDK5RAP2):c.2633C>T (p.Thr878Met) rs112982005 0.00008
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) rs369568564 0.00008
NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr) rs139143441 0.00007
NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln) rs200650108 0.00007
NM_018249.6(CDK5RAP2):c.978A>G (p.Ala326=) rs374830118 0.00007
NM_018249.6(CDK5RAP2):c.3265T>C (p.Ser1089Pro) rs138526640 0.00006
NM_018249.6(CDK5RAP2):c.5517G>A (p.Leu1839=) rs374625129 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_018249.6(CDK5RAP2):c.5241C>T (p.Leu1747=) rs753148214 0.00005
NM_018249.6(CDK5RAP2):c.1139C>T (p.Ser380Leu) rs376412750 0.00004
NM_018249.6(CDK5RAP2):c.128-10C>G rs369751106 0.00004
NM_018249.6(CDK5RAP2):c.2087C>T (p.Ala696Val) rs369208545 0.00004
NM_018249.6(CDK5RAP2):c.2792G>A (p.Arg931Lys) rs373118539 0.00004
NM_018249.6(CDK5RAP2):c.3240T>G (p.Thr1080=) rs549287534 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018249.6(CDK5RAP2):c.-154C>T rs886063403 0.00003
NM_018249.6(CDK5RAP2):c.4211C>A (p.Thr1404Asn) rs886063394 0.00003
NM_018249.6(CDK5RAP2):c.4497C>A (p.Ala1499=) rs886063393 0.00003
NM_018249.6(CDK5RAP2):c.507+5G>C rs370988646 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_018249.6(CDK5RAP2):c.2484G>A (p.Lys828=) rs745541294 0.00002
NM_018249.6(CDK5RAP2):c.3174C>A (p.Asp1058Glu) rs143639333 0.00002
NM_018249.6(CDK5RAP2):c.*211C>G rs1052092231 0.00001
NM_018249.6(CDK5RAP2):c.108T>C (p.Asn36=) rs760045017 0.00001
NM_018249.6(CDK5RAP2):c.1094G>A (p.Gly365Glu) rs370145364 0.00001
NM_018249.6(CDK5RAP2):c.1454G>T (p.Ser485Ile) rs1245240153 0.00001
NM_018249.6(CDK5RAP2):c.2050A>G (p.Met684Val) rs146216763 0.00001
NM_018249.6(CDK5RAP2):c.2546T>C (p.Leu849Pro) rs372113501 0.00001
NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.2573T>G (p.Val858Gly) rs771627748 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.506A>C (p.Lys169Thr) rs535816514 0.00001
NM_018249.6(CDK5RAP2):c.*30T>A rs2031680606
NM_018249.6(CDK5RAP2):c.*311C>T rs2031650568
NM_018249.6(CDK5RAP2):c.*331A>T rs2031647370
NM_018249.6(CDK5RAP2):c.-111A>G rs886063401
NM_018249.6(CDK5RAP2):c.-151C>A rs886063402
NM_018249.6(CDK5RAP2):c.-156G>A rs2043192715
NM_018249.6(CDK5RAP2):c.-185C>G rs536243883
NM_018249.6(CDK5RAP2):c.-3G>C rs932975
NM_018249.6(CDK5RAP2):c.-58G>T rs567847377
NM_018249.6(CDK5RAP2):c.-93G>A rs2043189404
NM_018249.6(CDK5RAP2):c.1239G>T (p.Gln413His) rs886063400
NM_018249.6(CDK5RAP2):c.1294G>A (p.Gly432Arg) rs886063399
NM_018249.6(CDK5RAP2):c.1657C>A (p.Leu553Met) rs886063398
NM_018249.6(CDK5RAP2):c.1709C>G (p.Ser570Cys) rs886063397
NM_018249.6(CDK5RAP2):c.1740G>A (p.Leu580=) rs2037726566
NM_018249.6(CDK5RAP2):c.1859-14dup rs747385902
NM_018249.6(CDK5RAP2):c.2149G>A (p.Glu717Lys) rs886063396
NM_018249.6(CDK5RAP2):c.2544A>G (p.Glu848=) rs562215641
NM_018249.6(CDK5RAP2):c.267A>C (p.Gln89His) rs2042016578
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg) rs143361777
NM_018249.6(CDK5RAP2):c.3722+14C>G rs748675436
NM_018249.6(CDK5RAP2):c.376A>C (p.Lys126Gln) rs1247866599
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
NM_018249.6(CDK5RAP2):c.383C>T (p.Ser128Phe) rs758009123
NM_018249.6(CDK5RAP2):c.4005-10A>G rs886063395
NM_018249.6(CDK5RAP2):c.4123A>C (p.Lys1375Gln) rs2034458820
NM_018249.6(CDK5RAP2):c.430C>T (p.Arg144Trp) rs763240159
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val) rs587783391
NM_018249.6(CDK5RAP2):c.4476G>T (p.Glu1492Asp) rs2033694230
NM_018249.6(CDK5RAP2):c.4605-13G>T rs753263727
NM_018249.6(CDK5RAP2):c.5049G>A (p.Glu1683=) rs886063392
NM_018249.6(CDK5RAP2):c.5061C>G (p.Leu1687=) rs886063391
NM_018249.6(CDK5RAP2):c.5167A>G (p.Asn1723Asp) rs886063390
NM_018249.6(CDK5RAP2):c.5235G>C (p.Gln1745His) rs886063389
NM_018249.6(CDK5RAP2):c.5318C>T (p.Pro1773Leu) rs148857536

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