ClinVar Miner

List of variants in gene PHKB reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr) rs141224055 0.00006
NM_000293.3(PHKB):c.134T>A (p.Leu45His) rs762053276 0.00002
NM_000293.3(PHKB):c.1669A>G (p.Ile557Val) rs1411474273 0.00001
NM_000293.3(PHKB):c.2860A>G (p.Asn954Asp) rs1164468458 0.00001
NM_000293.3(PHKB):c.681T>C (p.Tyr227=) rs756950044 0.00001
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2196+2T>G rs1973430655
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.333C>A (p.Thr111=)
NM_000293.3(PHKB):c.504T>G (p.Gly168=)
NM_000293.3(PHKB):c.710+14843C>G

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