ClinVar Miner

List of variants reported by MVZ Praenatalmedizin und Genetik Nuernberg

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_000051.4(ATM):c.6198+11T>C rs774664615 0.00001
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756 0.00001
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_000059.4(BRCA2):c.1129G>C (p.Glu377Gln) rs876658625
NM_000059.4(BRCA2):c.1608_1609del (p.Glu537fs) rs1593893353
NM_000059.4(BRCA2):c.3068_3071del (p.Asn1023fs) rs1555283031
NM_000059.4(BRCA2):c.474A>G (p.Ser158=) rs886041101
NM_000059.4(BRCA2):c.5035dup (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg) rs956554593
NM_000179.3(MSH6):c.1951_1952dup (p.Gly652fs) rs2104378465
NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter) rs1572728898
NM_000179.3(MSH6):c.4001+1G>A rs1114167729
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg) rs1938688718
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) rs1592232018
NM_005465.7(AKT3):c.230T>A (p.Leu77His) rs2147921662
NM_006009.4(TUBA1A):c.806T>C (p.Leu269Pro) rs2121243526
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala) rs2055253295
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala) rs80357312
NM_007294.4(BRCA1):c.343_344del (p.Ser114_Pro115insTer) rs1567810400
NM_007294.4(BRCA1):c.3590del (p.His1197fs) rs1555587442
NM_017780.4(CHD7):c.7967del (p.Lys2656fs) rs2129721927
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup) rs1555460665
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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