ClinVar Miner

List of variants in gene combination GATAD1, LOC129998793 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1486):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp) rs1320172026 0.00001
NM_021167.5(GATAD1):c.22A>T (p.Thr8Ser) rs1360888877 0.00001
NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp) rs1166946596
NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln) rs934989780
NM_021167.5(GATAD1):c.107G>C (p.Arg36Pro)
NM_021167.5(GATAD1):c.109G>A (p.Gly37Ser)
NM_021167.5(GATAD1):c.109G>C (p.Gly37Arg) rs1562816200
NM_021167.5(GATAD1):c.112_120del (p.Gly38_Gly40del) rs1010099230
NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1]) rs779421592
NM_021167.5(GATAD1):c.131_144del (p.Ala44fs)
NM_021167.5(GATAD1):c.145G>T (p.Ala49Ser) rs2115836818
NM_021167.5(GATAD1):c.155C>G (p.Thr52Ser) rs2115836944
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg) rs988478105
NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp) rs988478105
NM_021167.5(GATAD1):c.163A>G (p.Ser55Gly)
NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys) rs932471141
NM_021167.5(GATAD1):c.170G>C (p.Gly57Ala) rs946556857
NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr) rs1445688677
NM_021167.5(GATAD1):c.184G>T (p.Ala62Ser) rs1445688677
NM_021167.5(GATAD1):c.185C>T (p.Ala62Val) rs1562816344
NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup) rs1415933913
NM_021167.5(GATAD1):c.235G>A (p.Gly79Arg)
NM_021167.5(GATAD1):c.241G>A (p.Gly81Ser) rs1789230677
NM_021167.5(GATAD1):c.243C>T (p.Gly81=)
NM_021167.5(GATAD1):c.249+2T>C rs876657813
NM_021167.5(GATAD1):c.36C>T (p.Cys12=)
NM_021167.5(GATAD1):c.38A>G (p.Lys13Arg)
NM_021167.5(GATAD1):c.57G>A (p.Met19Ile) rs1789217100
NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)

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