ClinVar Miner

List of variants reported as likely benign for malabsorption syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_080669.6(SLC46A1):c.*4316C>G rs117397871 0.01065
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_080669.6(SLC46A1):c.*2123G>C rs7225850 0.00854
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_080669.6(SLC46A1):c.*3120A>G rs147971222 0.00348
NM_080669.6(SLC46A1):c.*1648G>A rs114008979 0.00295
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_080669.6(SLC46A1):c.*2852C>T rs569526091 0.00243
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_080669.6(SLC46A1):c.*1332G>A rs146041886 0.00101
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_080669.6(SLC46A1):c.*1392C>A rs141940033 0.00011
NM_080669.6(SLC46A1):c.*60G>T rs41297121 0.00006
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_080669.6(SLC46A1):c.*4035G>A rs569679076
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603

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