List of variants in gene combination LONP2, SIAH1 reported as pathogenic for Buratti-Harel syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003031.4(SIAH1):c.121T>G (p.Cys41Gly)	rs2151044152
NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu)	rs2151044134
NM_003031.4(SIAH1):c.383G>T (p.Cys128Phe)	rs2151044011
NM_003031.4(SIAH1):c.502A>G (p.Thr168Ala)	rs2151043918
NM_003031.4(SIAH1):c.520G>C (p.Gly174Arg)	rs2151043908

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