ClinVar Miner

List of variants in gene BOLA3 reported as uncertain significance for Multiple mitochondrial dysfunctions syndrome 2

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_212552.3(BOLA3):c.-35C>T rs761339384 0.00054
NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr) rs565294723 0.00048
NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys) rs150626228 0.00046
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) rs144366005 0.00023
NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu) rs149964046 0.00009
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln) rs202046520 0.00009
NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg) rs376876176 0.00004
NM_212552.3(BOLA3):c.-8G>A rs886056327 0.00003
NM_212552.3(BOLA3):c.*31T>C rs886056326 0.00001
NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu) rs965127002 0.00001
NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys) rs1692522564
NM_212552.3(BOLA3):c.170G>A (p.Gly57Glu) rs1692451706
NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr) rs747762311
NM_212552.3(BOLA3):c.21C>T (p.Ala7=) rs1008159965
NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp) rs2103649867
NM_212552.3(BOLA3):c.258G>C (p.Gln86His)
NM_212552.3(BOLA3):c.295C>T (p.Arg99Trp) rs866949521
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs) rs2528310707
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro) rs1692523487

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