ClinVar Miner

List of variants reported as likely pathogenic for Spondylometaphyseal dysplasia

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Total variants: 11
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NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.368G>A (p.Cys123Tyr) rs1559616744
NM_212482.3(FN1):c.506G>A (p.Cys169Tyr) rs1559609410
NM_212482.3(FN1):c.638G>A (p.Cys213Tyr) rs1559604072
NM_212482.3(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.3(FN1):c.693C>G (p.Cys231Trp) rs1064795155
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212482.3(FN1):c.773G>A (p.Cys258Tyr) rs1553658948
NM_212482.3(FN1):c.778T>G (p.Cys260Gly) rs1553658926
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502

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