ClinVar Miner

List of variants in gene ABAT reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.*2884T>C rs10261 0.00480
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.26G>A (p.Arg9His) rs531783337 0.00009
NM_020686.6(ABAT):c.990C>T (p.Thr330=) rs369874487 0.00003
NM_020686.6(ABAT):c.1233C>G (p.Ala411=) rs147188899
NM_020686.6(ABAT):c.447G>T (p.Ser149=) rs376531387

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