ClinVar Miner

List of variants reported for Familial cancer of breast by MVZ Praenatalmedizin und Genetik Nuernberg

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp) rs863224727 0.00001
NM_000051.4(ATM):c.7089+1G>T rs777741666
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter) rs2086676230
NM_000051.4(ATM):c.9068del (p.Gly3023fs) rs1591387383
NM_024675.4(PALB2):c.2756T>G (p.Val919Gly) rs886041103
NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) rs2142253658
NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_058216.3(RAD51C):c.12G>A (p.Lys4=) rs781166242

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