ClinVar Miner

List of variants reported as pathogenic for acromelic dysplasia by Mendelics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.7249del (p.Glu2417fs) rs2141226991
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) rs2141211556
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347

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