ClinVar Miner

List of variants reported as association for bone inflammation disease

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_012387.3(PADI4):c.349T>C (p.Leu117=) rs1748033 0.63756
NM_007365.3(PADI2):c.1159-39G>A rs2057094 0.56206
NM_012387.3(PADI4):c.245T>C (p.Val82Ala) rs11203367 0.55848
NM_012387.3(PADI4):c.163G>A (p.Gly55Ser) rs11203366 0.55047
NM_012387.3(PADI4):c.341-15T>C rs2240340 0.54446
NM_007365.3(PADI2):c.92+1006C>A rs1005753 0.54320
NM_007365.3(PADI2):c.729T>G (p.Gly243=) rs2076615 0.26663
NM_152649.4(MLKL):c.437G>A (p.Arg146Gln) rs34515646 0.01607
NM_152649.4(MLKL):c.394T>C (p.Ser132Pro) rs35589326 0.01191
NC_000001.11:g.17157671G>T rs1557787212
NM_007365.3(PADI2):c.*258A>T rs2235926
NM_012387.3(PADI4):c.335G>C (p.Gly112Ala) rs874881
NM_138636.5(TLR8):c.-169T>A rs1569113447
NM_138636.5(TLR8):c.-180G>C rs1569113445

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