List of variants reported as uncertain significance for amino acid metabolism disease by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016335.6(PRODH):c.650G>A (p.Arg217His)	rs148375080	0.00695
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)	rs140621272	0.00121
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)	rs200111698	0.00050
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)	rs28383480	0.00039
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met)	rs201902280	0.00006
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)	rs755059672	0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)	rs782138046	0.00002
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr)	rs750876815	0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)	rs759753811	0.00001
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001698.3(AUH):c.211A>C (p.Met71Leu)	rs756127206
NM_001698.3(AUH):c.44T>A (p.Leu15Gln)	rs757419657
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del)	rs949036081

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