ClinVar Miner

List of variants in gene SP7 studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001173467.3(SP7):c.1128T>C (p.His376=) rs7138938 0.95333
NM_001173467.3(SP7):c.1098C>T (p.Ser366=) rs7139272 0.90326
NM_001173467.3(SP7):c.993C>T (p.Cys331=) rs116856142 0.01263
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275 0.00062
NM_001173467.3(SP7):c.839G>T (p.Arg280Leu) rs200582631 0.00026
NM_001173467.3(SP7):c.799C>T (p.Arg267Cys) rs201666834 0.00019
NM_001173467.3(SP7):c.855G>A (p.Ala285=) rs561083858 0.00007
NM_001173467.3(SP7):c.1184G>A (p.Arg395His) rs369792296 0.00004
NM_001173467.3(SP7):c.-47-15del rs886049660
NM_001173467.3(SP7):c.1052del (p.Glu351fs) rs137853893
NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter) rs1427780619
NM_001173467.3(SP7):c.135_136del (p.Lys46fs) rs546981961
NM_001173467.3(SP7):c.144C>G (p.Tyr48Ter) rs1944675478
NM_001173467.3(SP7):c.184G>T (p.Asp62Tyr) rs2136836404
NM_001173467.3(SP7):c.359_362del (p.Asp120fs)
NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)
NM_001173467.3(SP7):c.500G>A (p.Trp167Ter) rs1294471020
NM_001173467.3(SP7):c.675C>T (p.Pro225=) rs1250981237
NM_001173467.3(SP7):c.946C>T (p.Arg316Cys) rs1565789682
NM_001173467.3(SP7):c.973G>A (p.Val325Ile)

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