ClinVar Miner

List of variants in gene PHEX reported as likely benign for not provided

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.187+223G>A rs141733180 0.01979
NM_000444.6(PHEX):c.436+230G>C rs112329519 0.01548
NM_000444.6(PHEX):c.850-169T>C rs143750363 0.01482
NM_000444.6(PHEX):c.349+170A>G rs139431328 0.01142
NM_000444.6(PHEX):c.1645+302T>C rs5951720 0.00929
NM_000444.6(PHEX):c.1080-173G>A rs146703869 0.00910
NM_000444.6(PHEX):c.1587-266T>A rs2071582 0.00842
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00009
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.922A>G (p.Met308Val) rs372663150 0.00006
NM_000444.6(PHEX):c.1141C>T (p.Arg381Cys) rs932260939 0.00005
NM_000444.6(PHEX):c.1024C>T (p.Arg342Cys) rs761575825 0.00003
NM_000444.6(PHEX):c.1470A>T (p.Glu490Asp) rs371934258 0.00003
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000444.6(PHEX):c.64G>T (p.Ala22Ser) rs773927462 0.00003
NM_000444.6(PHEX):c.72C>T (p.Val24=) rs1456105345 0.00003
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437 0.00002
NM_000444.6(PHEX):c.750C>T (p.Tyr250=) rs1322662992 0.00002
NM_000444.6(PHEX):c.1303-10T>A rs775781868 0.00001
NM_000444.6(PHEX):c.293T>A (p.Met98Lys) rs1207505931 0.00001
NM_000444.6(PHEX):c.-11C>T
NM_000444.6(PHEX):c.104C>T (p.Thr35Met)
NM_000444.6(PHEX):c.1062A>G (p.Leu354=)
NM_000444.6(PHEX):c.1174-11A>G
NM_000444.6(PHEX):c.1174-11A>T
NM_000444.6(PHEX):c.1174-8T>C
NM_000444.6(PHEX):c.1174-9C>G
NM_000444.6(PHEX):c.119-10_119-9del
NM_000444.6(PHEX):c.119-17G>A
NM_000444.6(PHEX):c.1323C>T (p.Gly441=)
NM_000444.6(PHEX):c.1335C>A (p.Ala445=) rs886841607
NM_000444.6(PHEX):c.1434T>C (p.Tyr478=) rs886041360
NM_000444.6(PHEX):c.1500C>T (p.Ala500=)
NM_000444.6(PHEX):c.1551T>C (p.Asp517=)
NM_000444.6(PHEX):c.1572C>T (p.Ala524=)
NM_000444.6(PHEX):c.1587-14T>C
NM_000444.6(PHEX):c.1632C>T (p.Ser544=)
NM_000444.6(PHEX):c.1645+187dup rs202159277
NM_000444.6(PHEX):c.187+12T>C
NM_000444.6(PHEX):c.188-17A>T rs2146987618
NM_000444.6(PHEX):c.244C>T (p.Arg82Trp)
NM_000444.6(PHEX):c.299G>A (p.Ser100Asn)
NM_000444.6(PHEX):c.350-18C>G
NM_000444.6(PHEX):c.378G>A (p.Arg126=)
NM_000444.6(PHEX):c.399G>A (p.Gln133=) rs1602273860
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.437-17T>C
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.44C>G (p.Ala15Gly)
NM_000444.6(PHEX):c.56C>A (p.Thr19Asn)
NM_000444.6(PHEX):c.578C>T (p.Thr193Met)
NM_000444.6(PHEX):c.663+11G>T
NM_000444.6(PHEX):c.663+20A>G
NM_000444.6(PHEX):c.708T>C (p.Leu236=)
NM_000444.6(PHEX):c.753G>A (p.Lys251=)
NM_000444.6(PHEX):c.850-13C>T

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