ClinVar Miner

List of variants in gene ALDH7A1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726 0.00014
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575 0.00013
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) rs138675705 0.00004
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600 0.00001
NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) rs794727259 0.00001
NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) rs773503933 0.00001
NM_001182.5(ALDH7A1):c.1087T>C (p.Trp363Arg) rs886044173
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) rs1467521069
NM_001182.5(ALDH7A1):c.518-10_518-9del rs1554100459

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