ClinVar Miner

List of variants reported as likely pathogenic for Glutaric aciduria, type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) rs1025558859 0.00004
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) rs754312389 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1233del (p.Asn411fs) rs2145955299
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) rs933624223
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) rs747370741
NM_000159.4(GCDH):c.636-3_639del rs1555750535
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815

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