ClinVar Miner

List of variants in gene PIGQ studied for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) rs111753944 0.00508
NM_004204.5(PIGQ):c.902G>A (p.Arg301His) rs371210440 0.00044
NM_004204.5(PIGQ):c.1117G>A (p.Val373Met) rs150887807 0.00040
NM_004204.5(PIGQ):c.41C>T (p.Thr14Met) rs200914759 0.00036
NM_004204.5(PIGQ):c.1602A>G (p.Pro534=) rs148151840 0.00024
NM_004204.5(PIGQ):c.466A>G (p.Thr156Ala) rs761546913 0.00018
NM_004204.5(PIGQ):c.1173T>G (p.Ile391Met) rs772434140 0.00013
NM_004204.5(PIGQ):c.928G>A (p.Val310Ile) rs137907943 0.00012
NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser) rs760734408 0.00010
NM_004204.5(PIGQ):c.1675G>A (p.Ala559Thr) rs202068219 0.00010
NM_004204.5(PIGQ):c.919G>A (p.Asp307Asn) rs377584601 0.00010
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00010
NM_004204.5(PIGQ):c.1438G>A (p.Val480Met) rs148537594 0.00009
NM_004204.5(PIGQ):c.512G>A (p.Arg171His) rs775456149 0.00007
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004204.5(PIGQ):c.1382C>T (p.Pro461Leu) rs771351668 0.00003
NM_004204.5(PIGQ):c.499G>A (p.Asp167Asn) rs144825405 0.00003
NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr) rs762452022 0.00002
NM_004204.5(PIGQ):c.613G>T (p.Ala205Ser) rs1555451827 0.00002
NM_004204.5(PIGQ):c.626C>T (p.Ser209Leu) rs764793325 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004204.5(PIGQ):c.1674C>T (p.Gly558=) rs760639555 0.00001
NM_004204.5(PIGQ):c.422T>C (p.Leu141Pro) rs751953516 0.00001
NM_004204.5(PIGQ):c.586G>A (p.Val196Met) rs980584148 0.00001
NM_004204.5(PIGQ):c.662C>T (p.Ser221Leu) rs1331791399 0.00001
NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys) rs1299731760 0.00001
NM_004204.5(PIGQ):c.913C>G (p.Leu305Val) rs771818509 0.00001
NM_004204.5(PIGQ):c.*117C>G
NM_004204.5(PIGQ):c.*133C>T
NM_004204.5(PIGQ):c.*303C>T
NM_004204.5(PIGQ):c.*351C>T
NM_004204.5(PIGQ):c.*379G>A
NM_004204.5(PIGQ):c.*487C>A
NM_004204.5(PIGQ):c.*508C>T
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile) rs558909404
NM_004204.5(PIGQ):c.1511G>T (p.Cys504Phe)
NM_004204.5(PIGQ):c.292C>T (p.Arg98Trp)
NM_004204.5(PIGQ):c.333C>A (p.His111Gln) rs753882585
NM_004204.5(PIGQ):c.352C>G (p.Pro118Ala)
NM_004204.5(PIGQ):c.386T>C (p.Ile129Thr)
NM_004204.5(PIGQ):c.470C>G (p.Ala157Gly)
NM_004204.5(PIGQ):c.488C>G (p.Ala163Gly) rs767292546
NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter)
NM_004204.5(PIGQ):c.616A>T (p.Arg206Trp)
NM_004204.5(PIGQ):c.745C>A (p.Gln249Lys)
NM_004204.5(PIGQ):c.773C>T (p.Thr258Met)
NM_004204.5(PIGQ):c.804C>A (p.Asn268Lys)
NM_004204.5(PIGQ):c.865G>A (p.Gly289Ser)
NM_004204.5(PIGQ):c.889C>T (p.His297Tyr)
NM_004204.5(PIGQ):c.937G>A (p.Ala313Thr)

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