ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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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_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_016038.4(SBDS):c.258+19A>G rs186000847 0.01143
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001012339.3(DNAJC21):c.1186-531G>A rs112971776 0.00144
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln) rs77129269 0.00036
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
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_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala) rs756494164 0.00002
NM_016038.4(SBDS):c.13del (p.Thr5fs) rs772797192 0.00001
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
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
NC_000007.14:g.66971410_66990307del
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) rs756768331
NM_003135.3(SRP19):c.189+5G>A rs1322282571
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) rs1950780024
NM_016038.2(SBDS):c.625-1delG rs1792914342
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+3G>C
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+347_459+223del
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.305_308del (p.Thr102fs) rs745661722
NM_016038.4(SBDS):c.326G>C (p.Arg109Thr) rs2129232269
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.460-1G>A rs1792969582
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) rs2129231218
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
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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