ClinVar Miner

List of variants in gene ALDH7A1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406 0.00095
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357 0.00014
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) rs372488916 0.00004
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) rs149228266 0.00003
NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=) rs538504116 0.00001
NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=) rs774216010 0.00001
NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=) rs770975428
NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)
NM_001182.5(ALDH7A1):c.723C>T (p.Asn241=)
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) rs1420938162
NM_001182.5(ALDH7A1):c.810G>A (p.Leu270=)
NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)

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