ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 2

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024580.6(EFL1):c.2358T>C (p.Gly786=) rs905450 0.81375
NM_024580.6(EFL1):c.2990-36T>C rs2457497 0.81008
NM_024580.6(EFL1):c.731+18T>C rs1972460 0.40011
NM_024580.6(EFL1):c.1398A>G (p.Gln466=) rs374308281 0.00009
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.2224A>G (p.Ile742Val) rs765113282 0.00003
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala) rs756494164 0.00002
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) rs775430621 0.00001
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.787C>G (p.Leu263Val) rs751006899 0.00001
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp) rs2292189
NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys) rs2074689405
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser) rs763132789
NM_024580.6(EFL1):c.1971C>G (p.His657Gln) rs779232326
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter) rs1330065864
NM_024580.6(EFL1):c.2478dup (p.Gly827fs) rs1380341628
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly) rs2141228362
NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr) rs1457781093
NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)

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