ClinVar Miner

List of variants in gene ABCC6 reported as pathogenic by OMIM

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Total variants: 25
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HGVS dbSNP
NG_007558.2:g.(60799_60814)_(77206_77221)del
NM_001171.5(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744
NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.3775del (p.Trp1259fs) rs72664233
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823
NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) rs387906352
NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524
NM_001171.5(ABCC6):c.450dup (p.Ala151fs) rs387906860

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