ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_000444.6(PHEX):c.*388A>G rs759086924

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