ClinVar Miner

List of variants studied for hemochromatosis type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000410.4(HFE):c.*871C>T rs62625357 0.03584
NM_000410.4(HFE):c.*801T>C rs62625356 0.03564
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000410.4(HFE):c.*988G>A rs143278243 0.01012
NM_000410.4(HFE):c.*991C>T rs148307737 0.00982
NM_000410.4(HFE):c.*61C>T rs62625349 0.00836
NM_000410.4(HFE):c.*403T>C rs62625351 0.00761
NM_000410.4(HFE):c.1026C>T (p.Tyr342=) rs35201683 0.00515
NM_000410.4(HFE):c.*296A>T rs62625350 0.00356
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NM_014585.6(SLC40A1):c.*735dup rs565741596 0.00285
NM_000410.4(HFE):c.*281C>T rs140664305 0.00151
NM_014585.6(SLC40A1):c.*420_*421del rs761349130 0.00138
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_014585.5(SLC40A1):c.-354G>T rs571127353 0.00085
NM_000410.4(HFE):c.*155C>T rs192228238 0.00083
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_000410.4(HFE):c.*746G>T rs62625355 0.00078
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.*578T>C rs539558655 0.00071
NM_000410.4(HFE):c.1006+14A>G rs201262562 0.00068
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_000410.4(HFE):c.21G>A (p.Pro7=) rs114758821 0.00039
NM_000410.4(HFE):c.*744G>C rs775050499 0.00032
NM_000410.4(HFE):c.68G>A (p.Arg23His) rs148161858 0.00032
NM_000410.4(HFE):c.*459C>T rs569199586 0.00028
NM_000410.4(HFE):c.670C>T (p.Arg224Trp) rs144797937 0.00013
NM_000410.4(HFE):c.*417C>T rs118079331 0.00008
NM_000410.4(HFE):c.*957T>C rs886061284 0.00008
NM_000410.4(HFE):c.*199G>A rs766844750 0.00006
NM_000410.4(HFE):c.*918A>G rs192191139 0.00006
NM_003227.4(TFR2):c.479C>T (p.Thr160Ile) rs746602701 0.00005
NM_000410.4(HFE):c.*120C>T rs573474865 0.00004
NM_000410.4(HFE):c.40C>G (p.Leu14Val) rs201657128 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000410.3(HFE):c.-96G>C rs768639966 0.00003
NM_000410.4(HFE):c.-7T>C rs369807746 0.00003
NM_000410.4(HFE):c.*301C>A rs373610457 0.00001
NM_000410.4(HFE):c.*517A>G rs886061283 0.00001
NM_000410.4(HFE):c.*625C>T rs538372302 0.00001
NM_000410.3(HFE):c.-48C>G rs41266793
NM_000410.4(HFE):c.*426T>C rs1762937555
NM_000410.4(HFE):c.*838T>C rs1762963332
NM_000410.4(HFE):c.707C>T (p.Thr236Ile) rs557062229
NM_014585.5(SLC40A1):c.-312_-310dupCGG rs3833570
NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG rs3833570
NM_014585.5(SLC40A1):c.-318_-310dupCGGCGGCGG rs3833570
NM_014585.6(SLC40A1):c.271+10_271+12del rs768786843

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