ClinVar Miner

List of variants in gene PRDM5 reported as likely benign for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
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.1632G>A (p.Pro544=) rs116026637 0.00299
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008

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