ClinVar Miner

List of variants reported as likely pathogenic by Section on Medical Neuroendocrinolgy,National Institutes of Health

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Total variants: 13
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HGVS dbSNP
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287-3C>G rs1553177772
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.348_352del (p.Ile117fs) rs1480267715
NM_003000.2(SDHB):c.540G>A (p.Leu180=) rs528442805
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237

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