ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
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.5035dup (p.Thr1679fs) rs80359477
NM_000179.2(MSH6):c.2842G>T (p.Glu948Ter) rs1572728898
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_007294.4(BRCA1):c.343_344del (p.Ser114_Pro115insTer) rs1567810400
NM_007294.4(BRCA1):c.3590del (p.His1197fs) rs1555587442
NM_032043.2(BRIP1):c.440del (p.Tyr147fs) rs1555616176

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