ClinVar Miner

Variants in gene RAD50 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly) rs145843634 0.00076
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) rs779597467 0.00002
NM_005732.4(RAD50):c.1794-3dup rs1554098578

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