ClinVar Miner

List of variants in gene ABCC6 reported as likely pathogenic for not provided

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2390G>A (p.Gly797Glu) rs768570780 0.00001
NM_001171.6(ABCC6):c.2591-1G>T rs1131691865 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NC_000016.9:g.(?_16271289)_(16286799_?)dup
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1338+1G>T
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.1850C>G (p.Ser617Ter) rs2047676193
NM_001171.6(ABCC6):c.2071-1G>A rs2047513887
NM_001171.6(ABCC6):c.2071-2A>T
NM_001171.6(ABCC6):c.2237_2238delinsGGTGCAGAGTTTG (p.Ile746fs) rs2152258579
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.2294G>C (p.Arg765Pro)
NM_001171.6(ABCC6):c.2294G>T (p.Arg765Leu) rs67561842
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) rs371889155
NM_001171.6(ABCC6):c.3349T>C (p.Ser1117Pro)
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.6(ABCC6):c.3506+1G>A
NM_001171.6(ABCC6):c.3506+2T>C rs2152224232
NM_001171.6(ABCC6):c.3883-2_3883-1del
NM_001171.6(ABCC6):c.3941G>T (p.Arg1314Leu)
NM_001171.6(ABCC6):c.4015C>A (p.Arg1339Ser)
NM_001171.6(ABCC6):c.4033A>T (p.Ile1345Phe)
NM_001171.6(ABCC6):c.4060G>A (p.Gly1354Ser)
NM_001171.6(ABCC6):c.4070G>C (p.Arg1357Pro)
NM_001171.6(ABCC6):c.4070G>T (p.Arg1357Leu)
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
NM_001171.6(ABCC6):c.890_905del (p.Arg297fs) rs2152283906

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