ClinVar Miner

List of variants reported as likely pathogenic by Genetics,Medical University of Vienna

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Total variants: 10
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HGVS dbSNP
NM_000020.2(ACVRL1):c.100dup (p.Cys34fs) rs1555152440
NM_000020.2(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.200G>C (p.Arg67Pro) rs863223414
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_000118.3(ENG):c.816+1G>A rs111471193
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_003002.4(SDHD):c.298del (p.Thr100fs) rs1555187067

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