ClinVar Miner

List of variants studied for bone development disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) rs149562813 0.00006
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) rs374379931 0.00004
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179 0.00002
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter) rs1239366051 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_001015880.2(PAPSS2):c.1662_1666del (p.Phe555fs) rs797045099
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer) rs2059050320
NM_001844.5(COL2A1):c.1681-2_1681-1del rs1592217071
NM_001851.6(COL9A1):c.1029del (p.Gly344fs)
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) rs1274744069
NM_004273.5(CHST3):c.195del (p.Asp66fs)
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755

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