List of variants reported as likely benign for immune system disorder by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
NM_000271.5(NPC1):c.1947+14G>T	rs3745024	0.01574
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	rs4986761	0.00782
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)	rs34715591	0.00373
NM_000271.5(NPC1):c.2795+19T>C	rs200103695	0.00342
NM_000271.5(NPC1):c.540C>T (p.Asp180=)	rs143656971	0.00300
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)	rs13381670	0.00283
NM_000271.5(NPC1):c.463+19A>G	rs117512587	0.00252
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	rs4988008	0.00125
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	rs145145840	0.00103
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_000271.5(NPC1):c.2604+14_2604+16del	rs747422358	0.00074
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)	rs150489856	0.00026
NM_000271.5(NPC1):c.3477+19T>C	rs375942184	0.00019
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.1947+16del	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+10dup	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup	rs3837910
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504

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