ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1843dup (p.Thr615fs) rs886041366
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.2071-2A>G rs1936359447
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227

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