List of variants in gene SDHD studied for Carney-Stratakis syndrome; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.356C>T (p.Ala119Val)	rs758784300	0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	rs745732631	0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)	rs776930864	0.00001
NM_003002.4(SDHD):c.315-7_315-5delinsAAA	rs1060503775
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe)	rs1209781530
NM_003002.4(SDHD):c.57del (p.Leu20fs)	rs587776649

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