List of variants reported as uncertain significance for amino acid metabolism disease by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	0.00234
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00088
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)	rs192912733	0.00034
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)	rs201553871	0.00008
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	rs121909124	0.00004
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)	rs187962930	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile)	rs752738349	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	rs62516062
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)	rs77554925
NM_005271.5(GLUD1):c.446-7CCA[4]	rs753723749

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