ClinVar Miner

List of variants studied for X-linked dominant hypophosphatemic rickets by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) rs77710864 0.00397
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.249C>T (p.Phe83=) rs145224279 0.00048
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.1966-10C>G rs771050789 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.441G>A (p.Ala147=) rs770726332
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868

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