ClinVar Miner

List of variants reported by Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001371909.1(C10orf67):c.910-1375T>G rs4454613 0.84565
NM_002999.4(SDC4):c.445+251C>T rs2425696 0.75835
NM_015874.6(RBPJ):c.20+29693T>G rs6853254 0.70332
NM_001371909.1(C10orf67):c.1201-4652A>G rs7904665 0.59355
NC_000004.12:g.26444384G>A rs2788865 0.59299
NC_000004.12:g.26450075G>A rs13116206 0.56404
NM_015874.6(RBPJ):c.21-2640G>A rs7655165 0.56073
NM_015874.6(RBPJ):c.20+13573C>T rs13144326 0.52441
NM_002999.4(SDC4):c.199+134A>G rs2072792 0.48742
NM_015874.6(RBPJ):c.156-2327G>C rs12639629 0.48387
NC_000010.11:g.23177805G>A rs7916519 0.48352
NC_000020.11:g.45324436T>G rs720063 0.44729
NM_015874.6(RBPJ):c.60-5130C>T rs12650452 0.34910
NM_002999.4(SDC4):c.446-1455C>T rs985586 0.26964
NC_000020.11:g.45319581A>C rs11698812 0.24897
NC_000010.11:g.23163713A>G rs10741021 0.23437
NM_001371909.1(C10orf67):c.851-537C>T rs7090683 0.19272
NM_015874.6(RBPJ):c.321+406G>A rs79533922 0.10243
NM_003064.4(SLPI):c.85+267C>T rs59339622 0.09487
NC_000010.11:g.23189850T>G rs4748844 0.08608
NC_000020.11:g.45279237T>C rs79312216 0.05422
NM_014276.4(RBPJL):c.132-389T>C rs2076027 0.04512
NM_014276.4(RBPJL):c.759T>C (p.Ala253=) rs2076026 0.03721
NM_015874.6(RBPJ):c.21-26407G>A rs73245775 0.02770
NM_005349.3(RBPJ):c.-1504G>A rs186895314 0.00771
NC_000020.11:g.45285365C>G rs76474829 0.00678
NM_015874.6(RBPJ):c.20+10722T>G rs78445835 0.00557
NC_000004.12:g.26222167C>T rs114530054 0.00396
NC_000010.11:g.23167584A>C rs16923098 0.00379
NC_000020.11:g.45157150A>G rs143311170 0.00366
NM_002999.4(SDC4):c.61-965T>C rs147593522 0.00361
NM_014276.4(RBPJL):c.23-481C>G rs138228405 0.00354
NM_015874.6(RBPJ):c.21-20856T>C rs78672655 0.00312
NM_001371909.1(C10orf67):c.1200+6658G>T rs116846325 0.00248
NM_015874.4(RBPJ):c.-112G>A rs185848565 0.00141
NM_015874.6(RBPJ):c.59+2331A>C rs186035024 0.00051
NM_014276.4(RBPJL):c.839C>T (p.Thr280Met) rs200998587 0.00041
NC_000010.11:g.23187502G>A rs187391034 0.00038
NC_000004.12:g.26453607G>C rs930109604 0.00021
NM_001393530.1(MATN4):c.643+703C>T rs961418965 0.00005
NC_000020.11:g.45324681_45324682del rs33961254
NM_001371909.1(C10orf67):c.1434+6169G>A rs1554804525
NM_002999.4(SDC4):c.61-4447del rs148973596
NM_014276.4(RBPJL):c.1333G>A (p.Asp445Asn) rs1555859311
NM_015874.6(RBPJ):c.60-8189dup rs77056130

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