ClinVar Miner

List of variants in gene MIB1 studied for congenital heart disease

Included ClinVar conditions (289):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020774.4(MIB1):c.2393+10A>G rs11877131 0.09299
NM_020774.4(MIB1):c.1962+17A>G rs139079482 0.00792
NM_020774.4(MIB1):c.1479+18A>G rs12605999 0.00637
NM_020774.4(MIB1):c.843A>T (p.Thr281=) rs137957940 0.00231
NM_020774.4(MIB1):c.1963-6G>A rs186680702 0.00108
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val) rs150652745 0.00099
NM_020774.4(MIB1):c.2337C>T (p.Leu779=) rs146430244 0.00037
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_020774.4(MIB1):c.1470C>T (p.Val490=) rs141701856 0.00023
NM_020774.4(MIB1):c.1092+3A>G rs372212766 0.00016
NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg) rs147206277 0.00016
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_020774.4(MIB1):c.636+7A>C rs765948951 0.00010
NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter) rs201146927 0.00009
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00004
NM_020774.4(MIB1):c.228C>G (p.Thr76=) rs757518044 0.00001
NM_020774.4(MIB1):c.2779+1G>C rs570099048 0.00001
NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) rs1555692389
NM_020774.4(MIB1):c.2039del (p.Gln680fs) rs757527279
NM_020774.4(MIB1):c.2285A>G (p.Asn762Ser)
NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter) rs1555696617
NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) rs1430105900
NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)
NM_020774.4(MIB1):c.442G>A (p.Ala148Thr) rs369261422
NM_020774.4(MIB1):c.908+5G>A

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