ClinVar Miner

List of variants reported as uncertain significance for rickets by Revvity Omics, Revvity

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile) rs766990714 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_000376.3(VDR):c.446A>G (p.Asp149Gly)
NM_000376.3(VDR):c.967C>G (p.Leu323Val)
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)
NM_001177316.2(SLC34A3):c.176-9T>G
NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)
NM_001177316.2(SLC34A3):c.847-26T>C
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)

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