ClinVar Miner

List of variants reported as likely pathogenic for rickets by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)	rs374873766
NM_000444.6(PHEX):c.2070+601C>T
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)

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