ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland pheochromocytoma

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP
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_003000.2(SDHB):c.131_139delTCTATCGAT (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_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.117_120delGTCT (p.Ile41Argfs) rs121908816
NM_017849.3(TMEM127):c.149_150insA (p.Pro51Alafs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.627_640dup (p.Met214Serfs) rs121908831
NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) rs121908815

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