List of variants in gene SDHD studied for Carney-Stratakis syndrome; Pheochromocytoma; 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.312C>T (p.His104=)	rs61734352	0.00690
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)	rs779249550	0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	rs745732631	0.00001
NM_003002.4(SDHD):c.113_122del (p.Arg38fs)
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)	rs1592780294
NM_003002.4(SDHD):c.315-1G>A	rs1555187566
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	rs587776648

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