ClinVar Miner

List of variants studied for rickets by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.110-2324G>C rs764471823 0.00004
NM_000785.4(CYP27B1):c.48_60del (p.Glu20fs)
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
NM_001128831.4(CA1):c.368_369del (p.His123fs) rs768769200

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