ClinVar Miner

List of variants in gene EFL1 reported as pathogenic for Shwachman-Diamond syndrome 2

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_024580.6(EFL1):c.89A>G (p.His30Arg) rs370108445 0.00004
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala) rs756494164 0.00002
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934 0.00001
NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys) rs757808847 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser) rs763132789
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter) rs1330065864
NM_024580.6(EFL1):c.2478dup (p.Gly827fs) rs1380341628
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly) rs2141228362

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