ClinVar Miner

List of variants reported as likely pathogenic for rickets by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NM_000376.3(VDR):c.-2-1G>A
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys) rs1057521095
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro)
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000785.4(CYP27B1):c.374G>T (p.Gly125Val)
NM_000785.4(CYP27B1):c.490G>A (p.Asp164Asn)
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.176-1G>A
NM_020638.3(FGF23):c.162G>C (p.Gln54His) rs193922701

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