List of variants reported as likely pathogenic for amino acid metabolism disease by Centogene AG - the Rare Disease Company

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)	rs202247806	0.00001
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)	rs398123088
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168
NM_000387.6(SLC25A20):c.105+1G>T	rs970037429
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)	rs752029455
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)	rs1970945661
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)	rs901526282
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)	rs2059190701
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)	rs2055884613
NM_005629.4(SLC6A8):c.1255-35_1272del	rs2091473708
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)	rs2041157497
NM_014362.4(HIBCH):c.386-1G>C	rs1203170244
NM_015629.4(PRPF31):c.267del (p.Glu89fs)	rs2146409568

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