ClinVar Miner

List of variants reported as likely pathogenic for bone remodeling disease by Counsyl

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.120+1G>A rs1057517279 0.00003
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814 0.00003
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.243+1G>A rs1057517263
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.399+2del rs1057516839
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.400-1G>C rs1553197262
NM_000396.4(CTSK):c.423_450del (p.Phe142fs) rs1057516627
NM_000396.4(CTSK):c.426del (p.Phe142fs) rs1057516514
NM_000396.4(CTSK):c.48del (p.Tyr17fs) rs1057516790
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) rs1553197239
NM_000396.4(CTSK):c.618+1G>A rs1553197230
NM_000396.4(CTSK):c.648del (p.Lys217fs) rs1057516891
NM_000396.4(CTSK):c.669del (p.Tyr224fs) rs1553196945
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) rs1553196900
NM_000396.4(CTSK):c.891-21_892dup rs1553196764
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257

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