ClinVar Miner

List of variants reported as likely benign for autosomal recessive disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00494
NM_001127671.2(LIFR):c.2591+17T>C rs73077453 0.00459
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00384
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser) rs148139900 0.00166
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=) rs138418444 0.00055
NM_031942.5(CDCA7):c.745A>C (p.Arg249=) rs146148251 0.00053
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00050
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00030
NM_000302.4(PLOD1):c.1471-9C>G rs376476977 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala) rs200482346 0.00018
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00012
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_001127671.2(LIFR):c.147T>G (p.Ala49=) rs879807300 0.00005
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=) rs1258728953 0.00001
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
NM_006736.6(DNAJB2):c.446-17C>G rs760786001 0.00001
NM_006892.4(DNMT3B):c.2421-4C>T rs766802588 0.00001
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_000231.3(SGCG):c.505+15G>T rs144143366
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.77-3320G>C rs2100738654
NM_000302.4(PLOD1):c.77-3351T>C rs1397591568
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001127671.2(LIFR):c.33A>G (p.Pro11=)
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.764+20T>G
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666

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