ClinVar Miner

List of variants studied for Nijmegen breakage syndrome-like disorder by Counsyl

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP
NM_005732.4(RAD50):c.1052-16del rs757412385
NM_005732.4(RAD50):c.1052-38C>T rs104895045
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.4(RAD50):c.214-44G>A rs74769721
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630
NM_005732.4(RAD50):c.2431_2433CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.4(RAD50):c.2923-7T>C rs1329253830
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3037-3T>C rs115737081
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.3165-4A>T rs104895050
NM_005732.4(RAD50):c.3165-8T>G rs369581851
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.4(RAD50):c.551+85A>G rs75639632
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005732.4(RAD50):c.885+11G>A rs117081789
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091

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