ClinVar Miner

Variants in gene ALDH4A1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
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

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