ClinVar Miner

List of variants reported as likely pathogenic for bone development disease by Institute of Human Genetics, Cologne University

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) rs1744257909 0.00001
NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161 0.00001
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) rs2144573313
NM_000088.4(COL1A1):c.2668-2A>G rs2144550759
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val) rs67828806
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val) rs1791951769
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp) rs1792108270
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu) rs2115931969
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg) rs2115954840
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs) rs1588309277
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del) rs2136587632
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
NM_001854.4(COL11A1):c.2882G>A (p.Gly961Asp)
NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr) rs768615287
NM_003995.4(NPR2):c.298G>A (p.Gly100Ser) rs753644648
NM_003995.4(NPR2):c.493del (p.Arg165fs)
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp) rs2145461096
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004273.5(CHST3):c.1332C>G (p.Cys444Trp) rs1216480002
NM_005430.4(WNT1):c.437G>T (p.Gly146Val)
NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)
NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)
NM_022356.4(P3H1):c.1224-79G>A
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter) rs1330779100
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys) rs2133014993

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