ClinVar Miner

List of variants studied for Poikiloderma with neutropenia

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.99-36G>A rs3743560 0.60543
NM_024598.4(USB1):c.42C>A (p.Ser14=) rs3743559 0.05803
NM_024598.4(USB1):c.748C>G (p.Gln250Glu) rs16959641 0.05789
NM_024598.4(USB1):c.693+15C>T rs16959640 0.02169
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00031
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00023
NM_024598.4(USB1):c.734G>A (p.Arg245His) rs140289507 0.00021
NM_024598.4(USB1):c.335G>A (p.Arg112Gln) rs142683238 0.00009
NM_024598.4(USB1):c.431G>A (p.Arg144His) rs367780234 0.00005
NM_024598.4(USB1):c.646G>A (p.Gly216Ser) rs778666156 0.00005
NM_024598.4(USB1):c.1A>G (p.Met1Val) rs760648279 0.00003
NM_024598.4(USB1):c.387G>C (p.Leu129=) rs542658449 0.00003
NM_024598.4(USB1):c.100G>A (p.Gly34Ser) rs769630452 0.00002
NM_024598.4(USB1):c.209G>A (p.Arg70Gln) rs767016894 0.00002
NM_024598.4(USB1):c.253G>A (p.Val85Ile) rs764580227 0.00002
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) rs1459714680 0.00002
NM_024598.4(USB1):c.111C>T (p.Pro37=) rs767672950 0.00001
NM_024598.4(USB1):c.229G>A (p.Glu77Lys) rs1226771318 0.00001
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024598.4(USB1):c.466A>C (p.Asn156His) rs748682814 0.00001
NM_024598.4(USB1):c.788C>T (p.Pro263Leu) rs773169264 0.00001
NM_024598.3:c.334dup
NM_024598.4(USB1):c.176_177del (p.Gly59fs) rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.17del (p.Leu6fs)
NM_024598.4(USB1):c.208C>T (p.Arg70Trp) rs531886363
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.345del (p.Arg115_Met116insTer) rs1555498120
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
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.63del (p.Met22fs) rs747958554
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024598.4(USB1):c.693+1G>T rs1292827495
NM_024598.4(USB1):c.74G>C (p.Arg25Thr) rs772792606
NM_024598.4(USB1):c.754C>T (p.Arg252Cys) rs146419360
NM_024598.4(USB1):c.796T>G (p.Ter266Gly) rs1963706554

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