ClinVar Miner

List of variants reported for Poikiloderma with neutropenia by GeneReviews

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) rs1459714680 0.00001
NM_024598.4(USB1):c.176_177del (p.Gly59fs) rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.232C>T (p.Arg78Ter) rs374559185
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) rs199820065
NM_024598.4(USB1):c.265+2T>G rs1555497680
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) rs771096742
NM_024598.4(USB1):c.334dup (p.Arg112fs) rs1555498117
NM_024598.4(USB1):c.415C>T (p.Gln139Ter) rs1555498129
NM_024598.4(USB1):c.450-2A>G rs1555498396
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.518T>G (p.Leu173Arg) rs1555498563
NM_024598.4(USB1):c.531del (p.His179fs) rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) rs1555498573
NM_024598.4(USB1):c.609+1G>A rs1555498581
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024598.4(USB1):c.693+1G>T rs1292827495

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