List of variants reported as likely pathogenic for inborn disorder of amino acid metabolism by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00009
NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)	rs66642398
NM_005629.4(SLC6A8):c.644+5G>C
NM_006269.2(RP1):c.160del (p.Val54fs)

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