ClinVar Miner

Variants in gene ALDH7A1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.193-20C>T rs199762757 0.00018
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.774-19C>T rs373058643 0.00010
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) rs376004978 0.00004

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