List of variants studied for hereditary hypophosphatemic rickets by 3billion, Medical Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
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_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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