ClinVar Miner

List of variants studied for Amelogenesis imperfecta hypomaturation type 2A2 by Illumina Laboratory Services, Illumina

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_004771.4(MMP20):c.824T>C (p.Val275Ala) rs1784423 0.39994
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn) rs1784424 0.39948
NM_004771.4(MMP20):c.810C>T (p.Tyr270=) rs11225343 0.02179
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu) rs17099008 0.00801
NM_004771.4(MMP20):c.415G>A (p.Asp139Asn) rs17099014 0.00724
NM_004771.4(MMP20):c.870A>T (p.Pro290=) rs17098831 0.00615
NM_004771.4(MMP20):c.92C>T (p.Pro31Leu) rs61730847 0.00465
NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala) rs61753770 0.00414
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_004771.4(MMP20):c.274A>G (p.Met92Val) rs61730848 0.00223
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu) rs149589493 0.00172
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) rs148818720 0.00153
NM_004771.4(MMP20):c.383A>C (p.Lys128Thr) rs61753771 0.00090
NM_004771.4(MMP20):c.723A>G (p.Ser241=) rs139717539 0.00081
NM_004771.4(MMP20):c.254G>A (p.Gly85Glu) rs200482846 0.00031
NM_004771.4(MMP20):c.453C>T (p.Ser151=) rs143965716 0.00026
NM_004771.4(MMP20):c.1422G>A (p.Val474=) rs373697258 0.00024
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) rs138853084 0.00023
NM_004771.4(MMP20):c.372C>T (p.Tyr124=) rs143362660 0.00016
NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe) rs150191942 0.00014
NM_004771.4(MMP20):c.103A>C (p.Arg35=) rs61751462 0.00009
NM_004771.4(MMP20):c.855C>A (p.Ala285=) rs768882792 0.00007
NM_004771.4(MMP20):c.808T>C (p.Tyr270His) rs778890652 0.00006
NM_004771.4(MMP20):c.1053C>T (p.Tyr351=) rs752244634 0.00004
NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala) rs774909387 0.00004
NM_004771.4(MMP20):c.375-11C>T rs538004005 0.00004
NM_004771.4(MMP20):c.183T>C (p.Val61=) rs778944042 0.00003
NM_004771.4(MMP20):c.454G>A (p.Ala152Thr) rs370166894 0.00003
NM_004771.4(MMP20):c.66A>G (p.Ala22=) rs144554695 0.00002
NM_004771.4(MMP20):c.*427A>T rs2292729 0.00001
NM_004771.4(MMP20):c.*481A>G rs1269175482 0.00001
NM_004771.4(MMP20):c.127-14C>A rs375856007 0.00001
NM_004771.4(MMP20):c.1296T>C (p.Thr432=) rs1303032939 0.00001
NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu) rs768247344 0.00001
NM_004771.4(MMP20):c.1424T>C (p.Val475Ala) rs751829476 0.00001
NM_004771.4(MMP20):c.375-10G>A rs781268807 0.00001
NM_004771.4(MMP20):c.67G>A (p.Ala23Thr) rs762774990 0.00001
NM_004771.4(MMP20):c.711C>T (p.Ser237=) rs779994078 0.00001
NM_004771.4(MMP20):c.*110A>T rs886047544
NM_004771.4(MMP20):c.*227A>C rs12278482
NM_004771.4(MMP20):c.*268T>C rs376611871
NM_004771.4(MMP20):c.*299G>A rs17098541
NM_004771.4(MMP20):c.*412G>A rs774781201
NM_004771.4(MMP20):c.*484T>C rs531522695
NM_004771.4(MMP20):c.1247+8T>C rs886047545
NM_004771.4(MMP20):c.1287A>G (p.Pro429=) rs200893460
NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn) rs1269504792
NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys) rs766621123
NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) rs367552668
NM_004771.4(MMP20):c.641G>C (p.Gly214Ala) rs1859574030
NM_004771.4(MMP20):c.644C>T (p.Thr215Met) rs377682409
NM_004771.4(MMP20):c.666C>T (p.Thr222=) rs763757159
NM_004771.4(MMP20):c.667G>A (p.Val223Ile) rs145109609
NM_004771.4(MMP20):c.883C>G (p.Leu295Val) rs146876571

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