List of variants studied for immune system disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro)	rs760962549	0.00001
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)	rs1064794236
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	rs587780624
NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)	rs2148212627
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs)	rs2135923459
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro)	rs2145906621
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del)	rs2145491212

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