ClinVar Miner

List of variants in gene combination RAD50, TH2LCRR reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_005732.4(RAD50):c.3861C>T (p.Tyr1287=) rs368356436 0.00019
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 0.00009
NM_005732.4(RAD50):c.3807T>C (p.His1269=) rs755777007 0.00001
NM_005732.4(RAD50):c.3813A>G (p.Glu1271=) rs1302002047 0.00001
NM_005732.4(RAD50):c.3876C>T (p.Asn1292=) rs1300783013 0.00001
NM_005732.4(RAD50):c.3897T>A (p.Ile1299=) rs767384027 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_005732.4(RAD50):c.3915C>T (p.Ser1305=) rs1183659259 0.00001
NM_005732.4(RAD50):c.3930T>C (p.Asn1310=) rs878854803 0.00001
NM_005732.4(RAD50):c.3774G>A (p.Gln1258=) rs1060504404
NM_005732.4(RAD50):c.3777G>A (p.Gln1259=) rs587780157
NM_005732.4(RAD50):c.3783C>T (p.Asn1261=) rs1581024957
NM_005732.4(RAD50):c.3786C>T (p.Phe1262=) rs267600344
NM_005732.4(RAD50):c.3789G>A (p.Gln1263=) rs115706334
NM_005732.4(RAD50):c.3798A>G (p.Val1266=)
NM_005732.4(RAD50):c.3801C>T (p.Ile1267=) rs1554101325
NM_005732.4(RAD50):c.3810T>C (p.Asp1270=) rs1486093198
NM_005732.4(RAD50):c.3840T>C (p.Ser1280=)
NM_005732.4(RAD50):c.3843A>G (p.Glu1281=) rs1581025084
NM_005732.4(RAD50):c.3855A>G (p.Lys1285=) rs1581025096
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_005732.4(RAD50):c.3888C>T (p.Cys1296=) rs1581025172
NM_005732.4(RAD50):c.3897T>C (p.Ile1299=) rs767384027
NM_005732.4(RAD50):c.3908G>A (p.Ser1303Asn) rs766044158
NM_005732.4(RAD50):c.3912T>C (p.Val1304=)
NM_005732.4(RAD50):c.3918C>G (p.Ser1306=) rs1554101337
NM_005732.4(RAD50):c.3933T>C (p.Val1311=) rs876660513

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