ClinVar Miner

List of variants in gene ABCC6 reported as benign for Pseudoxanthoma elasticum

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Total variants: 19
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HGVS dbSNP
NM_001171.5(ABCC6):c.*17G>A rs3902401
NM_001171.5(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.5(ABCC6):c.1245G>A (p.Val415=) rs9940825
NM_001171.5(ABCC6):c.1338+20C>G rs12929920
NM_001171.5(ABCC6):c.1338+7C>G rs9940089
NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala) rs12931472
NM_001171.5(ABCC6):c.1890C>G (p.Thr630=) rs8058696
NM_001171.5(ABCC6):c.1896C>A (p.His632Gln) rs8058694
NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789
NM_001171.5(ABCC6):c.2175A>T (p.Val725=) rs59757815
NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val) rs59593133
NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) rs9924755
NM_001171.5(ABCC6):c.2835C>T (p.Pro945=) rs2856585
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.345+26C>T rs56019914
NM_001171.5(ABCC6):c.3507-16T>C rs3213471
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4208+9G>A rs58760581
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282

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