ClinVar Miner

List of variants reported by MVZ Praenatalmedizin und Genetik Nuernberg

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Total variants: 25
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HGVS dbSNP
NM_000051.3(ATM):c.6198+11T>C rs774664615
NM_000051.3(ATM):c.7089+1G>T rs777741666
NM_000059.3(BRCA2):c.1129G>C (p.Glu377Gln) rs876658625
NM_000059.3(BRCA2):c.1608_1609del (p.Glu537fs) rs1593893353
NM_000059.3(BRCA2):c.3068_3071del (p.Asn1023fs) rs1555283031
NM_000059.3(BRCA2):c.474A>G (p.Ser158=) rs886041101
NM_000059.3(BRCA2):c.5035dup (p.Thr1679fs) rs80359477
NM_000059.3(BRCA2):c.9311A>G (p.Lys3104Arg) rs956554593
NM_000179.2(MSH6):c.2842G>T (p.Glu948Ter) rs1572728898
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001330368.2(C11orf65):c.640+20516del rs1591387383
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) rs755093756
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) rs1592232018
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp) rs863224727
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292
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.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3590del (p.His1197fs) rs1555587442
NM_024675.3(PALB2):c.2756T>G (p.Val919Gly) rs886041103
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup) rs1555460665
NM_032043.2(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_058216.3(RAD51C):c.12G>A (p.Lys4=) rs781166242

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