ClinVar Miner

Variants in gene PHEX with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818

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