List of variants reported as likely pathogenic for immune system disorder by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	rs768849283	0.00007
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)	rs137854447

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