ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by GeneReviews

Included ClinVar conditions (11):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)	rs776679653
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)	rs1587823007
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	rs730882246
NM_194279.4(ISCA2):c.297del (p.Phe99fs)	rs778755775
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly)	rs767352340

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