ClinVar Miner

List of variants studied for bone remodeling disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_001287.6(CLCN7):c.2250+1G>T rs1567263375
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333

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