ClinVar Miner

List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) rs778555849 0.00004
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) rs761837416 0.00002
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter) rs876658770 0.00002
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) rs745797941 0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) rs750586158 0.00001
NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs) rs1554100863
NM_005732.4(RAD50):c.3476del (p.Asp1159fs) rs1554100940
NM_005732.4(RAD50):c.3483del (p.Glu1161fs) rs1554100942
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3521C>G (p.Ser1174Ter)
NM_005732.4(RAD50):c.3525_3538del (p.Ser1176fs) rs1423570602
NM_005732.4(RAD50):c.3649dup (p.Leu1217fs) rs2149865588
NM_005732.4(RAD50):c.3671del (p.Asn1224fs)
NM_005732.4(RAD50):c.3707dup (p.Asn1236fs) rs1554101189
NM_005732.4(RAD50):c.3710_3714del (p.Leu1237fs)

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