ClinVar Miner

List of variants in gene BEST1 reported as benign for not provided

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.1740-42G>T rs195155 0.99519
NM_004183.4(BEST1):c.481+133A>G rs195164 0.88125
NM_004183.4(BEST1):c.247+165T>A rs195165 0.87997
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.482-313C>T rs195163 0.83853
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_004183.4(BEST1):c.714+238T>C rs2955684 0.83655
NM_004183.4(BEST1):c.714+239G>A rs2955683 0.83635
NM_004183.4(BEST1):c.1100+276G>A rs195157 0.79340
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_004183.4(BEST1):c.-37+137G>A rs2736597 0.48202
NM_004183.4(BEST1):c.636+113T>G rs195161 0.44141
NM_004183.4(BEST1):c.481+280A>T rs909268 0.37605
NM_004183.4(BEST1):c.482-24C>T rs760306 0.37512
NM_004183.4(BEST1):c.1739+188T>C rs17185413 0.16159
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.-36-217G>A rs2736596 0.05121
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.714+69_714+70insCACCTA rs1312136371 0.03272
NM_004183.4(BEST1):c.1739+49C>A rs115379107 0.02572
NM_004183.4(BEST1):c.-36-173T>C rs11825719 0.02483
NM_004183.4(BEST1):c.1739+62G>T rs115979721 0.02104
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_004183.4(BEST1):c.636+181C>A rs75769763 0.01703
NM_004183.4(BEST1):c.868-17C>A rs148662546 0.00324
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_004183.4(BEST1):c.714+13C>T rs571352824 0.00001
NM_004183.4(BEST1):c.153-14A>C rs775520760
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.1740-250_1740-249dup rs56215258
NM_004183.4(BEST1):c.1740-98del rs34046408
NM_004183.4(BEST1):c.1740-98dup rs34046408
NM_004183.4(BEST1):c.247+12del rs777306046
NM_004183.4(BEST1):c.481+210C>T rs114450910
NM_004183.4(BEST1):c.618_619delinsAA (p.Leu207Ile) rs386754168
NM_004183.4(BEST1):c.637-18C>G rs116299220
NM_004183.4(BEST1):c.714+68_714+70del rs1435285978
NM_004183.4(BEST1):c.714+71T>A rs185387478
NM_004183.4(BEST1):c.715-120A>G rs2668898
NM_004183.4(BEST1):c.715-12_715-11insTCCTCCTCC rs2134444482
NM_004183.4(BEST1):c.715-173CAAA[8] rs71046754
NM_004183.4(BEST1):c.715-173CAAA[9] rs71046754
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.715-18_715-17insTCCTCCTCC rs2134444286
NM_004183.4(BEST1):c.868-99G>T rs195158

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