ClinVar Miner

List of variants in gene BARD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe) rs1064793959 0.00003
NM_000465.4(BARD1):c.1317C>T (p.Gly439=) rs369986649 0.00001
NM_000465.4(BARD1):c.514G>A (p.Asp172Asn) rs759732945 0.00001
NM_000465.4(BARD1):c.965G>A (p.Arg322His) rs774251286 0.00001
GRCh37/hg19 2q35(chr2:215560030-215650764)x1
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser) rs1057518894
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile) rs376256852
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys) rs760201905

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