ClinVar Miner

List of variants in gene PRDM5 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_018699.3(PRDM5):c.*120T>C rs77157999
NM_018699.3(PRDM5):c.*141T>C rs886059040
NM_018699.3(PRDM5):c.*154A>T rs181244989
NM_018699.3(PRDM5):c.*176T>C rs558671397
NM_018699.3(PRDM5):c.-133T>C rs886059046
NM_018699.3(PRDM5):c.-172C>T rs558723351
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-234C>T rs111704622
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.3(PRDM5):c.-61G>C rs556802821
NM_018699.3(PRDM5):c.1031-6dup rs35363618
NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372
NM_018699.3(PRDM5):c.1189-14T>C rs375296023
NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) rs12499000
NM_018699.3(PRDM5):c.1283-5C>T rs185134294
NM_018699.3(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.3(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787
NM_018699.3(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.3(PRDM5):c.1623+8T>C rs201965676
NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His) rs142515463
NM_018699.3(PRDM5):c.1722G>A (p.Gln574=) rs147796327
NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110
NM_018699.3(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.3(PRDM5):c.236C>G (p.Ser79Cys) rs201325904
NM_018699.3(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111
NM_018699.3(PRDM5):c.342A>C (p.Glu114Asp) rs146228268
NM_018699.3(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.3(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.3(PRDM5):c.544C>T (p.Leu182Phe) rs199602365
NM_018699.3(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.3(PRDM5):c.650+5G>A rs754469516
NM_018699.3(PRDM5):c.650+7A>T rs751182540
NM_018699.3(PRDM5):c.660G>A (p.Gln220=) rs74320998
NM_018699.3(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819
NM_018699.3(PRDM5):c.681A>G (p.Leu227=) rs343192
NM_018699.3(PRDM5):c.743+14G>A rs185567213
NM_018699.3(PRDM5):c.849G>A (p.Gln283=) rs17051264
NM_018699.3(PRDM5):c.94-10T>G rs886059045
NM_018699.3(PRDM5):c.946-9C>T rs886059042
NM_018699.3(PRDM5):c.946_1623del
PRDM5, 1-BP DEL, 947G
PRDM5, IVS1DS, G-A, +1
PRDM5, IVS1DS, T-C, +2

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