ClinVar Miner

List of variants in gene PRDM16 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_022114.4(PRDM16):c.3284+15G>T rs870171 0.31838
NM_022114.4(PRDM16):c.444C>T (p.Ser148=) rs2282198 0.22946
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_022114.4(PRDM16):c.2603+20C>T rs2493291 0.14355
NM_022114.4(PRDM16):c.677-16G>A rs192554855 0.04854
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=) rs115226069 0.04338
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) rs61745281 0.02560
NM_022114.4(PRDM16):c.627C>T (p.His209=) rs12058363 0.02126
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) rs59135929 0.01493
NM_022114.4(PRDM16):c.2940-17G>A rs41301967 0.01452
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) rs2483221 0.00935
NM_022114.4(PRDM16):c.3109+10G>A rs7549401 0.00898
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=) rs35184988 0.00685
NM_022114.4(PRDM16):c.38-15C>T rs9662053 0.00658
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) rs370420046 0.00537
NM_022114.4(PRDM16):c.1518G>A (p.Thr506=) rs368589754 0.00469
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) rs201309284 0.00167
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile) rs183153140 0.00137
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_022114.4(PRDM16):c.2130G>A (p.Gly710=) rs193118666 0.00112
NM_022114.4(PRDM16):c.573+17A>G rs370287328 0.00091
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=) rs368750536 0.00063
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_022114.4(PRDM16):c.142G>A (p.Val48Met) rs199968728 0.00051
NM_022114.4(PRDM16):c.3110-4G>A rs201495178 0.00046
NM_022114.4(PRDM16):c.342G>A (p.Val114=) rs35186069 0.00042
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=) rs200167919 0.00041
NM_022114.4(PRDM16):c.2508C>T (p.Gly836=) rs374271999 0.00035
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=) rs199499877 0.00034
NM_022114.4(PRDM16):c.885-4G>A rs374365034 0.00029
NM_022114.4(PRDM16):c.2379G>A (p.Ser793=) rs368154998 0.00028
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_022114.4(PRDM16):c.1033-10G>A rs370090853 0.00013
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=) rs372910329 0.00013
NM_022114.4(PRDM16):c.884+7C>T rs373228175 0.00013
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=) rs374254884 0.00011
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser) rs200278862 0.00009
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr) rs755872965 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys) rs775285788 0.00007
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu) rs374012976 0.00007
NM_022114.4(PRDM16):c.1926C>T (p.Ser642=) rs369294573 0.00005
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=) rs755046777 0.00004
NM_022114.4(PRDM16):c.1040C>T (p.Thr347Met) rs746868217 0.00003
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=) rs548246861 0.00003
NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=) rs1023870233 0.00003
NM_022114.4(PRDM16):c.843C>T (p.His281=) rs201199516 0.00003
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=) rs768209040 0.00002
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu) rs369624816 0.00001
NM_022114.4(PRDM16):c.3163C>G (p.Pro1055Ala) rs368738819 0.00001
NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=) rs566695262 0.00001
NM_022114.4(PRDM16):c.1106C>A (p.Pro369His) rs1199723250
NM_022114.4(PRDM16):c.1484C>A (p.Pro495Gln) rs779190595
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn) rs772689095
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys) rs749180764
NM_022114.4(PRDM16):c.3746C>G (p.Pro1249Arg) rs764863295
NM_022114.4(PRDM16):c.574-20_574-17del rs565661633
NM_022114.4(PRDM16):c.677-16_677-11dup rs138423019

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