ClinVar Miner

List of variants in gene ADAMTS17 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_139057.4(ADAMTS17):c.3123C>A (p.Arg1041=) rs138966104 0.00237
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_139057.4(ADAMTS17):c.2955G>A (p.Ser985=) rs139663417 0.00131
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_139057.4(ADAMTS17):c.744C>T (p.His248=) rs140918730 0.00038
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796 0.00036
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581 0.00011
NM_139057.4(ADAMTS17):c.2882C>T (p.Pro961Leu) rs1567652287 0.00001
NM_139057.4(ADAMTS17):c.685A>G (p.Thr229Ala) rs770861112 0.00001
GRCh37/hg19 15q26.3(chr15:100442755-100537341)x3
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.616+24337G>A
NM_139057.4(ADAMTS17):c.700G>A (p.Val234Met) rs1596440579

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