ClinVar Miner

List of variants in gene ABCC6 reported as likely pathogenic for pseudoxanthoma elasticum, forme fruste

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) rs72657700 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.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.2591-1G>T rs1131691865 0.00001
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499 0.00001
NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His) rs149510465 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1884C>A (p.Cys628Ter)
NM_001171.6(ABCC6):c.219+2T>C
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2590G>T (p.Glu864Ter)
NM_001171.6(ABCC6):c.2666+1G>A
NM_001171.6(ABCC6):c.2796del (p.Thr933fs)
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.315del (p.Ile106fs)
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)
NM_001171.6(ABCC6):c.3822C>A (p.Tyr1274Ter)
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4340G>A (p.Trp1447Ter)
NM_001171.6(ABCC6):c.4404-1G>A
NM_001171.6(ABCC6):c.868del (p.Arg290fs)
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204

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