List of variants reported as uncertain significance for glutaryl-CoA dehydrogenase deficiency by Counsyl

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.*101G>A	rs140251161	0.00067
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_000159.4(GCDH):c.1244-15A>G	rs201407990	0.00014
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)	rs141456457	0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg)	rs771126053	0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)	rs774526353	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.*201A>C	rs1356787323	0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	rs752234195	0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675	0.00001
NM_000159.4(GCDH):c.365C>T (p.Ala122Val)	rs766325846	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	rs1328059662	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.*182AGA[1]	rs1555752085
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	rs1555751240
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	rs778153326
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	rs1555751379
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro)	rs748185335
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del)	rs1555749893
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly)	rs372429120
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)	rs746388510
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.427G>A (p.Val143Ile)	rs1555749918
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	rs1555749927
NM_000159.4(GCDH):c.636-2dup	rs762345287
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	rs1468636851
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser)	rs1555750589
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del)	rs768065370
NM_000159.4(GCDH):c.798G>A (p.Met266Ile)	rs1555750632
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)	rs794726972

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