List of variants reported as pathogenic for Poikiloderma with neutropenia by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)	rs137853973	0.00001
NM_024598.3:c.334dup
NM_024598.4(USB1):c.179del (p.Pro60fs)	rs786205051
NM_024598.4(USB1):c.266-1G>A	rs1555498092
NM_024598.4(USB1):c.489_492del (p.Asn163fs)	rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs)	rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly)	rs137853971
NM_024598.4(USB1):c.504-2A>C	rs137853970
NM_024598.4(USB1):c.531del (p.His179fs)	rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter)	rs1555498573
NM_024598.4(USB1):c.683_693+1del	rs137853972

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