ClinVar Miner

List of variants reported as pathogenic for bone disorder by MVZ Medizinische Genetik Mainz

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1021_1022insT (p.Gly341fs)
NM_000088.4(COL1A1):c.378del (p.Gly127fs)
NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys) rs2115959456
NM_000168.6(GLI3):c.1468G>T (p.Glu490Ter)
NM_000444.6(PHEX):c.1005dup (p.Ser336fs) rs2519779850
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter) rs2518664625
NM_000444.6(PHEX):c.202del (p.Ser68fs) rs1927568383
NM_001321120.2(TBX4):c.549+1G>A rs2509555498
NM_001369268.1(ACAN):c.2112dup (p.Val705fs)
NM_001844.5(COL2A1):c.2895+1G>T
NM_006265.3(RAD21):c.464del (p.Leu155fs) rs2537299235
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter) rs2536890849
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter) rs2536913760
NM_015426.5(POC1A):c.689_696del (p.Ala230fs)
NM_019023.5(PRMT7):c.1173C>G (p.Tyr391Ter) rs2545046414
NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro)
NM_022552.5(DNMT3A):c.2387del (p.Gly796fs)

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