ClinVar Miner

List of variants in gene PRDM5 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372 0.01952
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
NM_018699.4(PRDM5):c.1189-14T>C rs375296023 0.00036
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_018699.4(PRDM5):c.1031-15T>C rs201474353 0.00028
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) rs374583073 0.00005
NM_018699.4(PRDM5):c.1623+8T>C rs201965676 0.00005
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) rs183142477 0.00004
NM_018699.4(PRDM5):c.650+5G>A rs754469516 0.00003
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111 0.00002
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110 0.00001
NM_018699.4(PRDM5):c.650+7A>G rs751182540 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.3(PRDM5):c.946_1623del
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
NM_018699.4(PRDM5):c.1538-5T>G rs1744464153
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) rs755802156
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) rs1734381962
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) rs1725107158
NM_018699.4(PRDM5):c.1858del (p.His620fs) rs1734373037
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+2T>C
NM_018699.4(PRDM5):c.475+9T>A rs1561379470
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.4(PRDM5):c.650+7A>T rs751182540
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.93+1G>A rs1267369024
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_018699.4(PRDM5):c.94-10T>G rs886059045
NM_018699.4(PRDM5):c.946-9C>T rs886059042

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