ClinVar Miner

List of variants studied for Nijmegen breakage syndrome-like disorder by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.1932G>A (p.Arg644=) rs375978877 0.00004
NM_005732.4(RAD50):c.129+10C>A rs570876192 0.00001
NM_005732.4(RAD50):c.255A>G (p.Gln85=) rs761802581 0.00001
NM_005732.4(RAD50):c.3807T>C (p.His1269=) rs755777007 0.00001
NM_005732.4(RAD50):c.1839T>C (p.Asn613=) rs1316773244
NM_005732.4(RAD50):c.2352T>C (p.Ser784=) rs534731345
NM_005732.4(RAD50):c.2436A>G (p.Gln812=) rs1554099149

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