ClinVar Miner

List of variants reported as uncertain significance for Nijmegen breakage syndrome-like disorder by Sema4, Sema4

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln) rs144253015 0.00025
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met) rs587781940 0.00008
NM_005732.4(RAD50):c.1556G>T (p.Arg519Leu) rs140333740 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn) rs587782339 0.00005
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_005732.4(RAD50):c.2203A>C (p.Met735Leu) rs144890318 0.00004
NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln) rs35861031 0.00004
NM_005732.4(RAD50):c.511G>T (p.Ala171Ser) rs143483210 0.00004
NM_005732.4(RAD50):c.673G>A (p.Asp225Asn) rs587780159 0.00002
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn) rs1060501967 0.00001
NM_005732.4(RAD50):c.2314G>A (p.Glu772Lys) rs587782899 0.00001
NM_005732.4(RAD50):c.3061A>G (p.Asn1021Asp) rs786202957 0.00001
NM_005732.4(RAD50):c.3068C>T (p.Thr1023Ile) rs755608245 0.00001
NM_005732.4(RAD50):c.3191T>C (p.Ile1064Thr) rs780264599 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln) rs373407069 0.00001
NM_005732.4(RAD50):c.3839C>G (p.Ser1280Cys) rs747522239 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_005732.4(RAD50):c.578G>A (p.Arg193Gln) rs776046799 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.757-12C>A rs1427073290 0.00001
NM_005732.4(RAD50):c.915T>C (p.Asn305=) rs759379314 0.00001
NM_005732.4(RAD50):c.1088A>G (p.His363Arg) rs143654104
NM_005732.4(RAD50):c.1115A>C (p.Gln372Pro) rs375070140
NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile) rs786202509
NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) rs876658686
NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys) rs769143998
NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala) rs762093973
NM_005732.4(RAD50):c.287T>C (p.Val96Ala) rs1554097576
NM_005732.4(RAD50):c.3618+5G>A rs1554100971
NM_005732.4(RAD50):c.366-13T>A rs774557401
NM_005732.4(RAD50):c.36G>A (p.Val12=) rs1580974379
NM_005732.4(RAD50):c.3740A>G (p.His1247Arg) rs1397349878
NM_005732.4(RAD50):c.3752A>G (p.Glu1251Gly) rs1561661088
NM_005732.4(RAD50):c.3805C>T (p.His1269Tyr) rs876659730
NM_005732.4(RAD50):c.548C>T (p.Thr183Ile) rs1554097784
NM_005732.4(RAD50):c.829A>G (p.Ser277Gly) rs1580991879
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) rs863224744

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