ClinVar Miner

List of variants reported as likely pathogenic for bone disorder by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) rs750624044 0.00006
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp) rs1907549643
NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg) rs868850286
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.257+197_531-8del
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_006494.4(ERF):c.1049del (p.Leu350fs) rs2036390617
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del) rs2491980145

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