ClinVar Miner

List of variants studied for bone remodeling disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) rs555068245 0.00006
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter) rs1554709677
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter) rs766875506
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921

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