ClinVar Miner

List of variants in gene SDHD reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684 0.00001
NM_003002.4(SDHD):c.342T>C (p.Tyr114=) rs1050032491 0.00001
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248 0.00001
NM_003002.4(SDHD):c.202A>G (p.Ser68Gly) rs2135269276
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.445_448dup (p.Cys150fs) rs2135277783
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.53-52_53-49del rs562618773
NM_003002.4(SDHD):c.66A>G (p.Arg22=) rs2135267028
NM_003002.4(SDHD):c.72A>G (p.Pro24=) rs1413100881

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