ClinVar Miner

List of variants in gene SDHD reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.53-1G>T rs1291507545 0.00001
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr) rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro) rs104894302
NM_003002.4(SDHD):c.340T>C (p.Tyr114His) rs876659276
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu) rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg) rs80338847
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_003002.4(SDHD):c.53-2A>C

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