ClinVar Miner

List of variants reported as likely benign for Chondrodysplasia by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000316.3(PTH1R):c.*7G>A rs199649688
NM_000316.3(PTH1R):c.-37G>A rs201663714
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504
NM_000316.3(PTH1R):c.1395+15G>A rs151077141
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601
NM_000316.3(PTH1R):c.543+14T>C rs114449768
NM_000316.3(PTH1R):c.75+12G>A rs200603325
NM_000316.3(PTH1R):c.75+9C>T rs200710310
NM_000557.5(GDF5):c.*387T>C rs553655935
NM_000557.5(GDF5):c.*389C>T rs535023630
NM_000557.5(GDF5):c.*520T>C rs188252641
NM_000557.5(GDF5):c.-135G>A rs73094730
NM_000557.5(GDF5):c.-39C>T rs149907722
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447
NM_017813.5(IMPAD1):c.*2608A>C rs17188824
NM_017813.5(IMPAD1):c.*3204A>G rs3739364
NM_017813.5(IMPAD1):c.*4123_*4125del rs143068938
NM_017813.5(IMPAD1):c.*4890C>T rs1044731
NM_017813.5(IMPAD1):c.*5014A>G rs111729642
NM_017813.5(IMPAD1):c.*501_*503TGT[1] rs199901281
NM_017813.5(IMPAD1):c.*5512T>C rs9315
NM_017813.5(IMPAD1):c.*5689dup rs200630025
NM_017813.5(IMPAD1):c.*5730A>G rs80163062
NM_017813.5(IMPAD1):c.*701C>T rs1046636
NM_017813.5(IMPAD1):c.*764C>T rs10003
NM_017813.5(IMPAD1):c.*782G>A rs1046643
NM_017813.5(IMPAD1):c.*980del rs113846940
NM_017813.5(IMPAD1):c.-125C>T rs1057409
NM_017813.5(IMPAD1):c.-169C>T rs1057407

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