ClinVar Miner

List of variants reported as likely pathogenic by MVZ Praenatalmedizin und Genetik Nuernberg

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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_000179.3(MSH6):c.1951_1952dup (p.Gly652fs) rs2104378465
NM_000179.3(MSH6):c.4001+1G>A rs1114167729
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_005465.7(AKT3):c.230T>A (p.Leu77His) rs2147921662
NM_006009.4(TUBA1A):c.806T>C (p.Leu269Pro) rs2121243526
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala) rs2055253295
NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) rs2142253658

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