List of variants reported as uncertain significance for hyperprolinemia type 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr)	rs375023861	0.00011
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)	rs748025331	0.00010
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)	rs763793413	0.00006
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala)	rs746859503	0.00001
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	rs199828375	0.00001
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])	rs768891033

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