ClinVar Miner

List of variants studied for Papillon-Lefevre disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739

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