ClinVar Miner

List of variants in gene PHEX reported as benign for X-linked hypophosphatemic rickets

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006

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