ClinVar Miner

List of variants in gene combination CATIP, PNKD reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_015488.5(PNKD):c.254G>A (p.Arg85His) rs150402000 0.00140
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys) rs139825405 0.00053
NM_015488.5(PNKD):c.237-9G>A rs371173395 0.00044
NM_015488.5(PNKD):c.323A>G (p.His108Arg) rs142536637 0.00017
NM_015488.5(PNKD):c.781+13G>A rs201802667 0.00014
NM_015488.5(PNKD):c.1068G>A (p.Pro356=) rs139193832 0.00011
NM_015488.5(PNKD):c.466-3C>A rs370929830 0.00011
NM_015488.5(PNKD):c.524+14G>A rs373580030 0.00011
NM_015488.5(PNKD):c.498C>T (p.Val166=) rs376951824 0.00008
NM_015488.5(PNKD):c.340C>T (p.Arg114Cys) rs374529489 0.00007
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.430G>T (p.Val144Leu) rs764910957 0.00006
NM_015488.5(PNKD):c.645C>T (p.Ser215=) rs373992679 0.00006
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln) rs746884706 0.00006
NM_015488.5(PNKD):c.264C>T (p.Leu88=) rs138241166 0.00004
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp) rs533033409 0.00004
NM_015488.5(PNKD):c.492C>T (p.Thr164=) rs775533328 0.00004
NM_015488.5(PNKD):c.984+11C>T rs779135692 0.00004
NM_015488.5(PNKD):c.540G>A (p.Gly180=) rs748991526 0.00003
NM_015488.5(PNKD):c.648G>A (p.Val216=) rs767740808 0.00003
NM_015488.5(PNKD):c.1047G>A (p.Ala349=) rs575546377 0.00002
NM_015488.5(PNKD):c.1116G>A (p.Leu372=) rs1237935847 0.00002
NM_015488.5(PNKD):c.237-10C>T rs201618527 0.00002
NM_015488.5(PNKD):c.246G>A (p.Leu82=) rs145583175 0.00002
NM_015488.5(PNKD):c.357G>A (p.Val119=) rs1303377436 0.00002
NM_015488.5(PNKD):c.566G>A (p.Arg189Gln) rs199987826 0.00002
NM_015488.5(PNKD):c.597C>T (p.Asp199=) rs139122042 0.00002
NM_015488.5(PNKD):c.868+17C>A rs373858533 0.00002
NM_015488.5(PNKD):c.984+12G>A rs546037398 0.00002
NM_015488.5(PNKD):c.1074G>A (p.Pro358=) rs148953301 0.00001
NM_015488.5(PNKD):c.1149G>T (p.Lys383Asn) rs760423147 0.00001
NM_015488.5(PNKD):c.466-4G>A rs1383461623 0.00001
NM_015488.5(PNKD):c.466-9C>T rs765454285 0.00001
NM_015488.5(PNKD):c.524+18T>C rs747704832 0.00001
NM_015488.5(PNKD):c.525-10T>C rs1339930032 0.00001
NM_015488.5(PNKD):c.543C>T (p.Asn181=) rs761712009 0.00001
NM_015488.5(PNKD):c.579G>T (p.Val193=) rs1378240041 0.00001
NM_015488.5(PNKD):c.639G>T (p.Val213=) rs764570137 0.00001
NM_015488.5(PNKD):c.782-19C>T rs779635681 0.00001
NM_015488.5(PNKD):c.873T>C (p.His291=) rs1383953923 0.00001
NM_015488.5(PNKD):c.918C>T (p.Pro306=) rs780334841 0.00001
NM_015488.5(PNKD):c.985-9C>T rs568589204 0.00001
NM_015488.5(PNKD):c.1023G>T (p.Pro341=)
NM_015488.5(PNKD):c.1068G>C (p.Pro356=) rs139193832
NM_015488.5(PNKD):c.1095C>T (p.Asp365=)
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp) rs185906233
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) rs576363906
NM_015488.5(PNKD):c.237-11T>C
NM_015488.5(PNKD):c.237-14C>T
NM_015488.5(PNKD):c.237-4C>T
NM_015488.5(PNKD):c.237-8707G>T
NM_015488.5(PNKD):c.273C>T (p.Leu91=) rs550380646
NM_015488.5(PNKD):c.280C>A (p.Arg94=) rs754138242
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu) rs201495280
NM_015488.5(PNKD):c.309C>A (p.Arg103=) rs2106292815
NM_015488.5(PNKD):c.327G>A (p.Ser109=) rs766828848
NM_015488.5(PNKD):c.333C>G (p.Thr111=) rs1239020217
NM_015488.5(PNKD):c.352+13_352+15del
NM_015488.5(PNKD):c.352+18C>T
NM_015488.5(PNKD):c.353-16C>A rs2106293104
NM_015488.5(PNKD):c.353-6C>T rs1694625432
NM_015488.5(PNKD):c.375T>C (p.Pro125=) rs940846331
NM_015488.5(PNKD):c.384G>C (p.Ser128=)
NM_015488.5(PNKD):c.408C>T (p.Ile136=)
NM_015488.5(PNKD):c.414C>G (p.Thr138=) rs2106293207
NM_015488.5(PNKD):c.435T>C (p.Ala145=)
NM_015488.5(PNKD):c.442C>A (p.Pro148Thr) rs545078283
NM_015488.5(PNKD):c.453T>G (p.Pro151=)
NM_015488.5(PNKD):c.462G>A (p.Val154=) rs2106293300
NM_015488.5(PNKD):c.466-10T>C rs1694647158
NM_015488.5(PNKD):c.466-15T>A
NM_015488.5(PNKD):c.466-7C>T rs780814768
NM_015488.5(PNKD):c.471C>T (p.Ser157=)
NM_015488.5(PNKD):c.524+11C>T
NM_015488.5(PNKD):c.524+17T>C
NM_015488.5(PNKD):c.524+8G>T rs1464064363
NM_015488.5(PNKD):c.525-11C>A
NM_015488.5(PNKD):c.525-18G>A rs956409257
NM_015488.5(PNKD):c.531C>T (p.His177=) rs2106294834
NM_015488.5(PNKD):c.550C>T (p.Leu184Phe)
NM_015488.5(PNKD):c.576G>A (p.Arg192=)
NM_015488.5(PNKD):c.579G>A (p.Val193=) rs1378240041
NM_015488.5(PNKD):c.582C>T (p.Tyr194=)
NM_015488.5(PNKD):c.609C>T (p.Tyr203=)
NM_015488.5(PNKD):c.612C>T (p.Leu204=) rs1574720024
NM_015488.5(PNKD):c.617+17G>A
NM_015488.5(PNKD):c.663C>G (p.Ile221Met) rs749437540
NM_015488.5(PNKD):c.696C>A (p.Gly232=)
NM_015488.5(PNKD):c.699T>C (p.His233=)
NM_015488.5(PNKD):c.738C>T (p.Pro246=)
NM_015488.5(PNKD):c.781+13G>C rs201802667
NM_015488.5(PNKD):c.781+17G>A rs566000311
NM_015488.5(PNKD):c.781+19G>A rs768075145
NM_015488.5(PNKD):c.782-15C>G rs1694740535
NM_015488.5(PNKD):c.782-5C>T rs771442259
NM_015488.5(PNKD):c.782-7C>T rs773884627
NM_015488.5(PNKD):c.789C>T (p.Thr263=)
NM_015488.5(PNKD):c.822A>G (p.Ser274=) rs2106297256
NM_015488.5(PNKD):c.855C>A (p.Thr285=)
NM_015488.5(PNKD):c.855C>T (p.Thr285=) rs778631207
NM_015488.5(PNKD):c.868+18T>C
NM_015488.5(PNKD):c.868+7C>T rs1574722529
NM_015488.5(PNKD):c.868+8_868+20del rs2106297333
NM_015488.5(PNKD):c.869-15C>G
NM_015488.5(PNKD):c.869-17C>G
NM_015488.5(PNKD):c.869-6C>T
NM_015488.5(PNKD):c.894G>A (p.Leu298=)
NM_015488.5(PNKD):c.906T>G (p.Gly302=)
NM_015488.5(PNKD):c.930C>A (p.Ala310=) rs146224183
NM_015488.5(PNKD):c.936G>A (p.Glu312=)
NM_015488.5(PNKD):c.948G>A (p.Gln316=)
NM_015488.5(PNKD):c.972G>A (p.Glu324=)
NM_015488.5(PNKD):c.984+14G>A
NM_015488.5(PNKD):c.984+14_984+15del rs754161794
NM_015488.5(PNKD):c.984+18C>T

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