List of variants studied for hyperprolinemia type 2 by Genome-Nilou Lab

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003748.4(ALDH4A1):c.249+22A>G	rs941495	0.96827
NM_003748.4(ALDH4A1):c.678+75T>C	rs6426611	0.96773
NM_003748.4(ALDH4A1):c.1338+39A>G	rs7550822	0.91650
NM_003748.4(ALDH4A1):c.941-67T>C	rs6426814	0.82332
NM_003748.4(ALDH4A1):c.941-48C>T	rs6426813	0.76978
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=)	rs2230705	0.71986
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	rs2230708	0.71129
NM_003748.4(ALDH4A1):c.1461-137dup	rs35163726	0.63623
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)	rs7550938	0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)	rs2230706	0.63390
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)	rs2230707	0.47295
NM_003748.4(ALDH4A1):c.1579+49C>G	rs28529092	0.45319
NM_003748.4(ALDH4A1):c.1580-22A>T	rs28700162	0.38746
NM_003748.4(ALDH4A1):c.1461-109C>T	rs6665917

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