List of variants studied for Glutaric aciduria, type 1 by Myriad Genetics, Inc.

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)	rs121434367	0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	rs121434373	0.00026
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000159.4(GCDH):c.1244-2A>C	rs199999619	0.00003
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	rs751742575	0.00001
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter)	rs1970710230
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)	rs1252148225
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)	rs1970564107
NM_000159.4(GCDH):c.197_198del (p.Leu66fs)
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)	rs1302922191
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)	rs976647697
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter)	rs1970671544
NM_000159.4(GCDH):c.870_871del (p.Asn291fs)
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter)	rs1970694961
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)	rs1970707032

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