ClinVar Miner

List of variants studied for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome by Unité médicale des maladies autoinflammatoires, CHRU Montpellier

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.741+32_741+33dup rs104895417 0.00363
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418

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