ClinVar Miner

List of variants reported as uncertain significance for Shwachman-Diamond syndrome 2

Included ClinVar conditions (1):
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Total variants: 9
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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.2224A>G (p.Ile742Val) rs765113282 0.00003
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) rs775430621 0.00001
NM_024580.6(EFL1):c.787C>G (p.Leu263Val) rs751006899 0.00001
NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys) rs2074689405
NM_024580.6(EFL1):c.1971C>G (p.His657Gln) rs779232326
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)
NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr) rs1457781093
NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)

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