ClinVar Miner

Variants in gene TGM6 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985 0.00013
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_198994.3(TGM6):c.1968C>T (p.Asp656=) rs141258102 0.00006
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1678+9A>T

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