ClinVar Miner

List of variants in gene BEST1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.1215G>A (p.Arg405=) rs751740475 0.00012
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.244C>T (p.Leu82=) rs281865530 0.00002
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala) rs200582915 0.00001
NM_004183.4(BEST1):c.1739+181G>C rs753857645 0.00001
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.410T>C (p.Val137Ala) rs1451564462 0.00001
NM_004183.4(BEST1):c.494C>T (p.Pro165Leu) rs1422259821 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile) rs368383940
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.1348G>A (p.Val450Met) rs764761141
NM_004183.4(BEST1):c.1412C>T (p.Pro471Leu) rs2134470006
NM_004183.4(BEST1):c.1632G>A (p.Met544Ile) rs1591313915
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.299T>C (p.Leu100Pro) rs281865228
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg) rs374517178
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) rs281865209
NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr) rs281865211
NM_004183.4(BEST1):c.534C>T (p.His178=) rs1591288952
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.85T>C (p.Tyr29His) rs281865217
NM_004183.4(BEST1):c.867+177G>A
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058

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