ClinVar Miner

List of variants studied for bone disorder by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu) rs755279298
NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg) rs57377812
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp) rs72658183
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) rs199702395
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_004629.2(FANCG):c.179del (p.Leu60fs) rs1829130643
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_006031.6(PCNT):c.546_547del (p.Gly183fs) rs2517955419
NM_014112.5(TRPS1):c.2719del (p.Val907fs) rs2536588626
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr) rs515726172
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs) rs2480664088
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg) rs2480664753
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs) rs2149602979
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr) rs2149676839
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs) rs2149702380
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs) rs2149721417
NM_133433.4(NIPBL):c.6955-2A>C rs2149741447
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) rs2149755630
NM_133433.4:c.1480_2479del

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