List of variants reported as pathogenic for aplastic anemia by GeneReviews

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NR_001566.1(TERC):n.58G>A	rs113487931	0.01733
NR_001566.1(TERC):n.450G>A	rs199422287	0.00001
NM_001011.4(RPS7):c.147+1G>A	rs397507554
NR_001566.1(TERC):n.-100C>G	rs199422256
NR_001566.1(TERC):n.110_113del	rs199422270
NR_001566.1(TERC):n.117A>C	rs199422273
NR_001566.1(TERC):n.178G>A	rs199422275
NR_001566.1(TERC):n.180C>T	rs199422276
NR_001566.1(TERC):n.28_34del	rs199422259
NR_001566.1(TERC):n.305G>A	rs199422279
NR_001566.1(TERC):n.322G>A	rs199422280
NR_001566.1(TERC):n.323C>T	rs199422281
NR_001566.1(TERC):n.391_392del	rs199422283
NR_001566.1(TERC):n.72C>G	rs199422265

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