ClinVar Miner

List of variants reported as benign for hyperprolinemia type 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
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.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.1408G>A (p.Val470Ile) rs2230709 0.11004
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033 0.06532
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_003748.4(ALDH4A1):c.250-17C>T rs9426718 0.03729
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_003748.4(ALDH4A1):c.603+14G>A rs79637190 0.01743
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434 0.00992
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237 0.00952
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636 0.00496
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014 0.00488
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058 0.00417
NM_003748.4(ALDH4A1):c.1185+10G>A rs201079601 0.00301
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117 0.00250
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415 0.00249
NM_003748.4(ALDH4A1):c.298-14C>T rs201072479 0.00149
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567 0.00133
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436 0.00124
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947 0.00116
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420 0.00044
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354 0.00034
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)

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