List of variants in gene MDH2 reported as pathogenic for complex neurodevelopmental disorder

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_005918.4(MDH2):c.517G>A (p.Asp173Asn)	rs372196070	0.00006
NM_005918.4(MDH2):c.109G>A (p.Gly37Arg)	rs782308462	0.00003
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)	rs375002796	0.00003
NM_005918.4(MDH2):c.885+5G>A	rs552544806	0.00001
NM_005918.4(MDH2):c.596del (p.Gly199fs)	rs1057519567
NM_005918.4(MDH2):c.620C>T (p.Pro207Leu)	rs1057519566
NM_005918.4(MDH2):c.751A>G (p.Met251Val)

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