ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.234C>T (p.Ser78=) rs9901455 0.15951
NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln) rs4796033 0.11973
NM_002878.4(RAD51D):c.903+53C>T rs45496096 0.01225
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser) rs775045445 0.00003
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.782A>C (p.Lys261Thr) rs1060502964

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