ClinVar Miner

List of variants in gene combination RAD50, TH2-LCR, TH2LCRR studied for Nijmegen breakage syndrome-like disorder

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln) rs144253015 0.00025
NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn) rs397507179 0.00010
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala) rs786201205 0.00008
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) rs778555849 0.00004
NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln) rs35861031 0.00004
NM_005732.4(RAD50):c.3514A>T (p.Asn1172Tyr) rs757481515 0.00003
NM_005732.4(RAD50):c.3752+7_3752+9dup rs772887509 0.00003
NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) rs587780156 0.00002
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) rs761837416 0.00002
NM_005732.4(RAD50):c.3697C>A (p.Pro1233Thr) rs768985477 0.00002
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770 0.00002
NM_005732.4(RAD50):c.3437T>C (p.Ile1146Thr) rs1554100862 0.00001
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) rs745797941 0.00001
NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu) rs763145238 0.00001
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln) rs369788398 0.00001
NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln) rs373407069 0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) rs750586158 0.00001
NM_005732.4(RAD50):c.3655G>T (p.Glu1219Ter) rs587781569 0.00001
NM_005732.4(RAD50):c.3767G>A (p.Arg1256His) rs786203127 0.00001
NM_005732.4(RAD50):c.3429C>G (p.Ile1143Met)
NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs) rs2149862783
NM_005732.4(RAD50):c.3475+2T>C rs761168506
NM_005732.4(RAD50):c.3476del (p.Asp1159fs) rs1554100940
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3564dup (p.Leu1189fs)
NM_005732.4(RAD50):c.3565C>G (p.Leu1189Val)
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3618+5G>A rs1554100971
NM_005732.4(RAD50):c.3625G>A (p.Ala1209Thr) rs1060501944
NM_005732.4(RAD50):c.3740A>G (p.His1247Arg) rs1397349878
NM_005732.4(RAD50):c.3752+1G>A
NM_005732.4(RAD50):c.3752A>G (p.Glu1251Gly) rs1561661088
NM_005732.4(RAD50):c.3753-1G>A rs1554101314
NM_005732.4(RAD50):c.3753-2A>G
NM_005732.4(RAD50):c.3763del (p.Ser1255fs) rs760621534
NM_005732.4(RAD50):c.3764G>A (p.Ser1255Asn) rs1202026618

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