ClinVar Miner

List of variants in gene SDHD studied for Pheochromocytoma

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.*803A>G rs17113461 0.10714
NM_003002.4(SDHD):c.*260T>A rs149570245 0.04112
NM_003002.4(SDHD):c.*532A>T rs146261846 0.01251
NM_003002.4(SDHD):c.*622A>G rs142510105 0.00694
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_003002.4(SDHD):c.*186A>G rs183918321 0.00317
NM_003002.4(SDHD):c.*369A>G rs200753024 0.00157
NM_003002.4(SDHD):c.*352C>G rs192900956 0.00137
NM_003002.4(SDHD):c.*822T>C rs201472512 0.00133
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118 0.00003
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003002.4(SDHD):c.*340A>G rs201280702
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.340T>C (p.Tyr114His) rs876659276
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) rs878854594
NM_003002.4(SDHD):c.386del (p.Leu129fs) rs864321644
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306

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