ClinVar Miner

List of variants in gene PRDM5 studied for Brittle cornea syndrome 1

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Total variants: 29
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HGVS dbSNP gnomAD frequency
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_018699.3(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.1633T>C (p.Tyr545His) rs142515463 0.00030
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.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.*176T>C rs558671397 0.00006
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
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.592G>C (p.Glu198Gln) rs886059043

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