List of variants studied for inborn disorder of amino acid metabolism by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	rs140002610	0.00038
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)	rs776503550	0.00003
NM_001609.4(ACADSB):c.303+3A>G	rs1345480688	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_000071.3(CBS):c.667-1G>C	rs1982513394
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	rs1064797365
NM_001080.3(ALDH5A1):c.1402+1G>T	rs762290992
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)	rs570730665
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	rs1064794764
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile)	rs2122803550
NM_006343.3(MERTK):c.2211_2214del (p.Cys738fs)	rs1487540503
NM_201253.3(CRB1):c.2420T>G (p.Leu807Arg)

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