List of variants reported as uncertain significance for glutaryl-CoA dehydrogenase deficiency by Natera, Inc.

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

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.471C>T (p.Ser157=)	rs146682905	0.00081
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn)	rs761135089	0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=)	rs143172809	0.00016
NM_000159.4(GCDH):c.-4G>C	rs371464666	0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)	rs370059118	0.00008
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe)	rs371654188	0.00007
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)	rs146363703	0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)	rs201509112	0.00005
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)	rs549254182	0.00002
NM_000159.4(GCDH):c.1082+8C>T	rs199627852	0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)	rs780408127	0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)	rs759838598	0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	rs780976048	0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr)	rs759415410	0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)	rs1449724176	0.00001
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)	rs764993096	0.00001
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)	rs1568429153
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)	rs141819282
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro)	rs1417742838
NM_000159.4(GCDH):c.397G>A (p.Val133Met)	rs746388510
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)	rs121434373
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)	rs777494547
NM_000159.4(GCDH):c.957-6A>C	rs748270195

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