ClinVar Miner

List of variants studied for carcinoma by Human Genetics Bochum, Ruhr University Bochum

Included ClinVar conditions (269):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.8584+1G>C rs876658182
NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_004360.5(CDH1):c.878T>G (p.Val293Gly) rs876659186
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala) rs80357312
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075

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