ClinVar Miner

List of variants in gene ABAT reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) rs140119176 0.00042
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) rs775339966 0.00003
NM_020686.6(ABAT):c.678G>A (p.Ala226=) rs112564762 0.00003
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr) rs750911984 0.00002
NM_020686.6(ABAT):c.486C>T (p.Ala162=) rs763045532 0.00002
NM_020686.6(ABAT):c.169-6C>T rs758166055 0.00001
NM_020686.6(ABAT):c.587C>T (p.Thr196Met) rs546024063 0.00001
NM_020686.6(ABAT):c.110T>G (p.Val37Gly) rs373781844
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?) rs756457894
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) rs374113959
NM_020686.6(ABAT):c.678G>C (p.Ala226=) rs112564762
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn) rs886043117

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