ClinVar Miner

List of variants in gene LOC107652445, SHOX studied for bone development disease

Included ClinVar conditions (614):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.335A>C (p.Gln112Pro) rs757391565 0.00001
NM_000451.4(SHOX):c.304G>T (p.Glu102Ter) rs137852558
NM_000451.4(SHOX):c.334C>T (p.Gln112Ter) rs1425206026
NM_000451.4(SHOX):c.352_353del (p.Arg118fs) rs1569493663
NM_000451.4(SHOX):c.352_353dup (p.Arg119fs) rs1569493663
NM_000451.4(SHOX):c.389A>C (p.Asn130Thr) rs2052712369
NM_000451.4(SHOX):c.394C>G (p.Leu132Val) rs137852554
NM_000451.4(SHOX):c.458G>T (p.Arg153Leu) rs137852555
NM_000451.4(SHOX):c.463G>C (p.Gly155Arg) rs765251991
NM_000451.4(SHOX):c.463G>T (p.Gly155Trp) rs765251991

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