List of variants reported as pathogenic for constitutional neutropenia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)	rs386834093	0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	rs137854451
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)	rs386834070
NM_152564.5(VPS13B):c.292-1G>A	rs1057520768
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)	rs386834090
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.467+3_467+6del

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