ClinVar Miner

List of variants reported as association for autoimmune disorder of musculoskeletal system by HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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_007365.3(PADI2):c.92+1006C>A rs1005753 0.54320
NM_007365.3(PADI2):c.729T>G (p.Gly243=) rs2076615 0.26663
NM_007365.3(PADI2):c.*258A>T rs2235926
NM_012387.3(PADI4):c.335G>C (p.Gly112Ala) rs874881

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