ClinVar Miner

List of variants in gene BEST1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln) rs201386186 0.00012
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg) rs62639270 0.00006
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr) rs375618932 0.00004
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004183.4(BEST1):c.159C>A (p.Ala53=) rs375873874 0.00001
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter) rs753334817 0.00001
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.153-22CCACCC[4]
NM_004183.4(BEST1):c.1739+129G>A
NM_004183.4(BEST1):c.1739+37C>T
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.248-10T>A
NM_004183.4(BEST1):c.335G>C (p.Gly112Ala)
NM_004183.4(BEST1):c.675T>C (p.Tyr225=)
NM_004183.4(BEST1):c.715-18TCC[10]
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.715-18TCC[9] rs1805182
NM_004183.4(BEST1):c.867+131G>A
NM_004183.4(BEST1):c.971_975del (p.Glu324fs)

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