List of variants in gene ALDH4A1, LOC120893116 studied for hyperprolinemia type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	rs2230708	0.71129
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	rs2230709	0.11004
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	rs6695033	0.06532
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)	rs150762865	0.00217
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	rs146222625	0.00026
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)	rs377270740	0.00008
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	rs199828375	0.00001
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)	rs762708368	0.00001
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.1339-12C>T
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)	rs1156594126
NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)
NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)
NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)	rs2100553228
NM_003748.4(ALDH4A1):c.1460+15C>T	rs371777923
NM_003748.4(ALDH4A1):c.1460+16G>C

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