ClinVar Miner

List of variants studied for hereditary hypophosphatemic rickets by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NC_000023.10:g.(22244626_22245623)_(22245729_22263449)del
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1079+1G>A rs886039583
NM_000444.6(PHEX):c.1079+2T>G rs2147047585
NM_000444.6(PHEX):c.1079+2_1079+5del rs2147047571
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1482+3A>C rs1933409121
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1828_1832dup (p.Phe611fs) rs1131691645
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer) rs886041368
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.2071-2A>C rs1936359447
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.436+2T>A rs1929158021
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.724del (p.Ala242fs) rs1929832980
NM_000444.6(PHEX):c.732+1G>T rs2147035585
NM_000444.6(PHEX):c.733-1G>A rs886041223
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.849+1G>T rs1057521144
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000444.6(PHEX):c.934-2A>G rs1930291143
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
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702

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