ClinVar Miner

List of variants in gene ABCC6 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001171.6(ABCC6):c.346-7C>T rs528654660 0.00111
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.4002G>C (p.Gly1334=) rs139128550 0.00010
NM_001171.6(ABCC6):c.4104C>T (p.Asp1368=) rs199668617 0.00008
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.474G>A (p.Ala158=) rs376219152 0.00001
NM_001171.6(ABCC6):c.117A>G (p.Val39=)
NM_001171.6(ABCC6):c.1311C>T (p.Ile437=)
NM_001171.6(ABCC6):c.1636-5C>G rs771552185
NM_001171.6(ABCC6):c.2151G>A (p.Leu717=)
NM_001171.6(ABCC6):c.3732G>A (p.Lys1244=) rs773961518
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)
NM_001171.6(ABCC6):c.4164C>G (p.Pro1388=) rs373736094
NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)

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