ClinVar Miner

List of variants in gene PRMT7 reported as likely pathogenic for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr) rs1313637057 0.00001
NM_019023.5(PRMT7):c.1323+2T>G rs1339009950 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) rs1567739042
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn) rs2151558358
NM_019023.5(PRMT7):c.457dup (p.Glu153fs) rs2151701931
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) rs1597361540

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