ClinVar Miner

List of variants studied for amino acid metabolism disease by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.554G>A (p.Trp185Ter) rs11913840 0.05253
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_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
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_001902.6(CTH):c.793C>T (p.Arg265Ter) rs773107808 0.00003
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile) rs752738349 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_014270.5(SLC7A9):c.88-2A>G rs1085307095 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_001379270.1(CNGA1):c.179del (p.Gly60fs) rs527236058
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala) rs1085307056
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058

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