ClinVar Miner

List of variants in gene PRDM16 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 56
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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.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.783C>T (p.Tyr261=) rs61756439 0.00952
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) rs2483221 0.00935
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.1212G>A (p.Thr404=) rs139129844 0.00438
NM_022114.4(PRDM16):c.387+6C>T rs369010644 0.00373
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
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.2290G>A (p.Val764Met) rs149333409 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=) rs541512137 0.00100
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.38-14G>A rs368409902 0.00058
NM_022114.4(PRDM16):c.3110-4G>A rs201495178 0.00046
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.439-16G>A rs374357486 0.00017
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=) rs370768364 0.00015
NM_022114.4(PRDM16):c.439-17C>T rs370432632 0.00015
NM_022114.4(PRDM16):c.1187-10G>C rs201517837 0.00014
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.714C>A (p.Leu238=) rs371540074 0.00010
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn) rs758565663 0.00009
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu) rs374012976 0.00007
NM_022114.4(PRDM16):c.2691+4C>T rs374015321 0.00006
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=) rs749676367 0.00004
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=) rs755046777 0.00004
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.215T>G (p.Val72Gly) rs1208537671 0.00001
NM_022114.4(PRDM16):c.2297G>A (p.Gly766Asp) rs778681326
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.2685C>T (p.His895=) rs1303585718
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys) rs749180764
NM_022114.4(PRDM16):c.574-20_574-17del rs565661633
NM_022114.4(PRDM16):c.677-16_677-11dup rs138423019

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