ClinVar Miner

List of variants reported as likely pathogenic by Endocrinology Clinic, Seth G.S. Medical College

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Total variants: 19
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NC_000003.12:g.87310484C>T rs606231411
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413
NM_001122757.3(POU1F1):c.293-3C>G rs754584667
NM_003000.2(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003002.3(SDHD):c.386delT rs864321644
NM_006261.4(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_033163.4(FGF8):c.237C>G (p.Leu79=) rs606231408
NM_033163.4(FGF8):c.451G>A (p.Gly151Ser) rs606231407

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