ClinVar Miner

List of variants in gene SMAD6 reported as likely pathogenic for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.791A>G (p.Tyr264Cys) rs750855608 0.00001
NM_005585.5(SMAD6):c.1410G>C (p.Lys470Asn) rs1363576646
NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs) rs1595756703
NM_005585.5(SMAD6):c.38T>A (p.Leu13His) rs1893016936
NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp) rs1595756962
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.590C>A (p.Ser197Tyr) rs1893041246

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