List of variants reported as pathogenic for immune system disorder by Shendure Lab, University of Washington

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	rs28942105	0.00002
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001

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