ClinVar Miner

List of variants in gene INF2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.1040G>A (p.Arg347Gln) rs1212221513 0.00001
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln) rs775331561 0.00001
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp) rs762706488 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro) rs761808106 0.00001
GRCh37/hg19 14q32.33(chr14:105173247-105177523)x1
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
NM_022489.4(INF2):c.1795T>C (p.Phe599Leu)
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly) rs2140675983
NM_022489.4(INF2):c.2396C>T (p.Thr799Met)
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.3546G>T (p.Glu1182Asp)

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