ClinVar Miner

List of variants studied for Schmid metaphyseal chondrodysplasia by Mendelics

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr) rs1064583 0.47609
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg) rs2228547 0.16401
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr) rs2114278741
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del) rs1582811858

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