ClinVar Miner

List of variants in gene ABCC9 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=) rs143310355 0.00013
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_020297.4(ABCC9):c.3007T>C (p.Leu1003=) rs138700703 0.00001
NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=) rs760351484 0.00001
NM_020297.4(ABCC9):c.957T>C (p.Ser319=) rs768245158 0.00001
NM_020297.4(ABCC9):c.1471A>C (p.Arg491=) rs1948042755
NM_020297.4(ABCC9):c.1521G>A (p.Leu507=) rs1565470512
NM_020297.4(ABCC9):c.2475G>A (p.Ala825=) rs587780845
NM_020297.4(ABCC9):c.2799G>A (p.Glu933=) rs1565735141
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) rs397517189
NM_020297.4(ABCC9):c.4362A>G (p.Arg1454=) rs1941931456
NM_020297.4(ABCC9):c.90C>T (p.Asn30=) rs1428470419

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