ClinVar Miner

List of variants studied for rickets by 3billion

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_000376.3(VDR):c.460C>T (p.Arg154Trp) rs746619116 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)
NM_000444.6(PHEX):c.1479dup (p.Ala494fs) rs2147118833
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys) rs1556151526
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.934-2A>G rs1930291143
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro) rs2140396100
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)
NM_001177316.2(SLC34A3):c.1796T>A (p.Leu599Ter)
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)

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