List of variants in gene SP7 studied for Osteogenesis imperfecta type 12

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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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.1220G>A (p.Arg407Gln)	rs900808909	0.00001
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.359_362del (p.Asp120fs)
NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)
NM_001173467.3(SP7):c.810C>A (p.Cys270Ter)
NM_001173467.3(SP7):c.946C>T (p.Arg316Cys)	rs1565789682
NM_001173467.3(SP7):c.973G>A (p.Val325Ile)

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