ClinVar Miner

List of variants in gene RELN reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_005045.4(RELN):c.3913-9T>C rs372473867 0.00076
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363 0.00072
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005045.4(RELN):c.6519C>T (p.Phe2173=) rs146913017 0.00036
NM_005045.4(RELN):c.2754A>G (p.Gln918=) rs114620008 0.00034
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00024
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005045.4(RELN):c.4260G>A (p.Gly1420=) rs150518726 0.00019
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00016
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781 0.00016
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.4701C>T (p.Asp1567=) rs755634872 0.00006
NM_005045.4(RELN):c.5418C>T (p.Asp1806=) rs746613525 0.00006
NM_005045.4(RELN):c.3190G>A (p.Ala1064Thr) rs114389730 0.00005
NM_005045.4(RELN):c.5002A>G (p.Met1668Val) rs762369288 0.00005
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.2016G>A (p.Pro672=) rs146749232 0.00004
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055 0.00004
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys) rs766869538 0.00004
NM_005045.4(RELN):c.1923C>T (p.Asn641=) rs753289916 0.00003
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424 0.00003
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610 0.00003
NM_005045.4(RELN):c.7431C>T (p.Ile2477=) rs775529885 0.00003
NM_005045.4(RELN):c.1278C>T (p.Ser426=) rs755465811 0.00002
NM_005045.4(RELN):c.2086T>C (p.Ser696Pro) rs765274194 0.00002
NM_005045.4(RELN):c.226+8C>T rs369454305 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.5350G>A (p.Val1784Met) rs374736779 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005045.4(RELN):c.1482A>T (p.Ile494=) rs764121311 0.00001
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys) rs745368912 0.00001
NM_005045.4(RELN):c.1892G>A (p.Gly631Glu) rs398124190 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.2741A>G (p.Tyr914Cys) rs1270109681 0.00001
NM_005045.4(RELN):c.3288A>G (p.Gln1096=) rs758505618 0.00001
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) rs794727441 0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) rs202161592 0.00001
NM_005045.4(RELN):c.4594A>G (p.Ile1532Val) rs794727561 0.00001
NM_005045.4(RELN):c.4903A>G (p.Met1635Val) rs746451678 0.00001
NM_005045.4(RELN):c.6072+4C>G rs369869975 0.00001
NM_005045.4(RELN):c.6089C>T (p.Ser2030Leu) rs779803541 0.00001
NM_005045.4(RELN):c.6163C>T (p.Leu2055=) rs757357348 0.00001
NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu) rs539045917 0.00001
NM_005045.4(RELN):c.1600C>T (p.Pro534Ser) rs115160339
NM_005045.4(RELN):c.1734G>A (p.Leu578=) rs727504126
NM_005045.4(RELN):c.2125A>T (p.Met709Leu) rs114577182
NM_005045.4(RELN):c.2201T>A (p.Val734Asp) rs794727207
NM_005045.4(RELN):c.3053_3058dup (p.Ala1018_Gln1019dup) rs786200988
NM_005045.4(RELN):c.3135T>C (p.His1045=) rs886043570
NM_005045.4(RELN):c.326C>T (p.Ala109Val) rs886044167
NM_005045.4(RELN):c.3315A>G (p.Ser1105=) rs886042201
NM_005045.4(RELN):c.361G>C (p.Gly121Arg) rs886044682
NM_005045.4(RELN):c.5044G>A (p.Val1682Ile) rs727504125
NM_005045.4(RELN):c.5338G>A (p.Ala1780Thr) rs794727583
NM_005045.4(RELN):c.5360G>C (p.Arg1787Pro) rs372887562
NM_005045.4(RELN):c.544+6C>A rs537314807
NM_005045.4(RELN):c.5465G>C (p.Gly1822Ala) rs141734678
NM_005045.4(RELN):c.6027C>T (p.Thr2009=) rs751445947
NM_005045.4(RELN):c.670A>C (p.Asn224His) rs794727867
NM_005045.4(RELN):c.6969G>A (p.Leu2323=) rs794727678
NM_005045.4(RELN):c.7719G>C (p.Glu2573Asp) rs1554369111
NM_005045.4(RELN):c.7787T>C (p.Leu2596Ser) rs1562868040
NM_005045.4(RELN):c.831T>C (p.Tyr277=) rs398124192

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