List of variants reported as likely pathogenic for Isovaleryl-CoA dehydrogenase deficiency by Counsyl

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835	0.00013
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_002225.5(IVD):c.-8T>C	rs566691073	0.00002
NM_002225.5(IVD):c.-9A>T	rs373594717	0.00002
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412	0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs)	rs769048174	0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs)	rs398123682	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs)	rs398123684	0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_002225.5(IVD):c.102_103del (p.Val35fs)	rs1057517379
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)	rs1555405428
NM_002225.5(IVD):c.144+1G>A	rs928991928
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)	rs1555403211
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)	rs907414760
NM_002225.5(IVD):c.457-2A>G	rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG	rs786204427
NM_002225.5(IVD):c.551-1G>A	rs1057517043
NM_002225.5(IVD):c.711dup (p.Lys238Ter)	rs1555404426
NM_002225.5(IVD):c.744dup (p.Asn249Ter)	rs1057516769
NM_002225.5(IVD):c.785-1G>A	rs1555404784
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002225.5(IVD):c.878+1G>A	rs745629936
NM_002225.5(IVD):c.961-1G>T	rs1555405067
NM_002225.5(IVD):c.961-2A>G	rs1057517056
NM_002225.5(IVD):c.974del (p.Lys325fs)	rs1555405070
NM_002225.5(IVD):c.994del (p.Arg332fs)	rs1555405080

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