ClinVar Miner

List of variants in gene GATAD1 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys) rs540654499 0.00011
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala) rs778560008 0.00007
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu) rs145306938 0.00006
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys) rs780188711 0.00005
NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser) rs779832718 0.00005
NM_021167.5(GATAD1):c.646A>T (p.Met216Leu) rs778197140 0.00004
NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg) rs145592666 0.00003
NM_021167.5(GATAD1):c.539A>T (p.Glu180Val) rs764831879 0.00003
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val) rs200665705 0.00002
NM_021167.5(GATAD1):c.308C>T (p.Ala103Val) rs374329900 0.00001
NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys) rs200584566 0.00001
NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala) rs1237515001 0.00001
NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys) rs922487847 0.00001
NM_021167.5(GATAD1):c.250-5A>G
NM_021167.5(GATAD1):c.358A>G (p.Ile120Val)
NM_021167.5(GATAD1):c.362T>C (p.Phe121Ser)
NM_021167.5(GATAD1):c.368T>G (p.Leu123Trp)
NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)
NM_021167.5(GATAD1):c.435+5G>A
NM_021167.5(GATAD1):c.437G>A (p.Gly146Glu)
NM_021167.5(GATAD1):c.487G>A (p.Gly163Arg)
NM_021167.5(GATAD1):c.500A>T (p.Tyr167Phe)
NM_021167.5(GATAD1):c.526G>A (p.Asp176Asn)
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp) rs727503061
NM_021167.5(GATAD1):c.550G>T (p.Ala184Ser)
NM_021167.5(GATAD1):c.625G>C (p.Glu209Gln)
NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)
NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)
NM_021167.5(GATAD1):c.701C>A (p.Ser234Ter)
NM_021167.5(GATAD1):c.754C>T (p.His252Tyr)
NM_021167.5(GATAD1):c.800A>G (p.Asn267Ser)

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