ClinVar Miner

List of variants in gene LOC100287944, POLR3B studied for central nervous system malformation

Included ClinVar conditions (164):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_018082.6(POLR3B):c.*347A>G rs2288266 0.24463
NM_018082.6(POLR3B):c.*565G>A rs55715506 0.00886
NM_018082.6(POLR3B):c.*582C>G rs75217257 0.00616
NM_018082.6(POLR3B):c.2877C>T (p.His959=) rs148708579 0.00569
NM_018082.6(POLR3B):c.*492A>T rs780838654 0.00223
NM_018082.6(POLR3B):c.*238T>C rs149535796 0.00214
NM_018082.6(POLR3B):c.*372A>G rs557970332 0.00106
NM_018082.6(POLR3B):c.*442G>A rs574873455 0.00073
NM_018082.6(POLR3B):c.*584A>G rs886048903 0.00026
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn) rs201527706 0.00009
NM_018082.6(POLR3B):c.*60A>G rs560425343 0.00008
NM_018082.6(POLR3B):c.*587G>C rs576237770 0.00006
NM_018082.6(POLR3B):c.2933G>A (p.Arg978His) rs117293015 0.00006
NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=) rs772975950 0.00005
NM_018082.6(POLR3B):c.3273-7G>A rs373580359 0.00005
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=) rs373346251 0.00004
NM_018082.6(POLR3B):c.3098+8A>G rs753390602 0.00004
NM_018082.6(POLR3B):c.2905G>A (p.Val969Met) rs200477676 0.00003
NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=) rs886048901 0.00003
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_018082.5(POLR3B):c.*653C>T rs1252707400 0.00001
NM_018082.6(POLR3B):c.*205G>C rs2038746494 0.00001
NM_018082.6(POLR3B):c.*98C>T rs532224514 0.00001
NM_018082.6(POLR3B):c.2818-1G>T rs1057520785 0.00001
NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val) rs779604405 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=) rs778281040 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr) rs765382317 0.00001
NM_018082.6(POLR3B):c.2823G>A (p.Gly941=) rs757733299
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe) rs2137076093
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter) rs2137076107
NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu) rs199545845
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr) rs2038598006
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val) rs2137084674
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val) rs886048902
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val) rs2137097735
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter) rs2137097739

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