ClinVar Miner

List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534 0.00003
NM_000103.4(CYP19A1):c.256C>T (p.Arg86Ter) rs374081925 0.00003
NM_000103.4(CYP19A1):c.200G>A (p.Trp67Ter) rs371981915 0.00001
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538 0.00001
NC_000015.10:g.(?_51218531)_(51218665_?)del
NC_000015.10:g.51212562del rs1217078313
NM_000103.4(CYP19A1):c.1009C>T (p.Gln337Ter) rs2141041805
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter) rs2542394532
NM_000103.4(CYP19A1):c.1028_1031del (p.Arg343fs) rs2542394488
NM_000103.4(CYP19A1):c.1051C>T (p.Gln351Ter) rs781574524
NM_000103.4(CYP19A1):c.1058T>A (p.Leu353Ter) rs2542394345
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) rs769461019
NM_000103.4(CYP19A1):c.1085dup (p.Ser363fs) rs2141034530
NM_000103.4(CYP19A1):c.1126A>T (p.Lys376Ter) rs2141034312
NM_000103.4(CYP19A1):c.1165A>T (p.Lys389Ter) rs1595665808
NM_000103.4(CYP19A1):c.1263+1G>A rs2031075939
NM_000103.4(CYP19A1):c.1263+1G>T rs2031075939
NM_000103.4(CYP19A1):c.1282C>T (p.Gln428Ter)
NM_000103.4(CYP19A1):c.220dup (p.Cys74fs) rs2542466150
NM_000103.4(CYP19A1):c.277G>T (p.Glu93Ter) rs2141105930
NM_000103.4(CYP19A1):c.283_286del (p.Ile96fs) rs2542465709
NM_000103.4(CYP19A1):c.312_334del (p.Phe104fs) rs745865546
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) rs2141079375
NM_000103.4(CYP19A1):c.365_366dup (p.Gln123fs) rs2542438998
NM_000103.4(CYP19A1):c.385G>T (p.Glu129Ter) rs1239898028
NM_000103.4(CYP19A1):c.433C>T (p.Arg145Ter) rs1359922150
NM_000103.4(CYP19A1):c.502del (p.Leu168fs) rs752116741
NM_000103.4(CYP19A1):c.563del (p.Val187_Leu188insTer) rs2542423178
NM_000103.4(CYP19A1):c.596_597del (p.Thr198_Ser199insTer) rs2141061879
NM_000103.4(CYP19A1):c.652dup (p.Gln218fs) rs2542412966
NM_000103.4(CYP19A1):c.671G>A (p.Trp224Ter) rs2141051275
NM_000103.4(CYP19A1):c.693del (p.Asp232fs)
NM_000103.4(CYP19A1):c.701_702insAA (p.Phe234fs) rs2141051210
NM_000103.4(CYP19A1):c.712del (p.Ser238fs) rs2542412670
NM_000103.4(CYP19A1):c.716G>A (p.Trp239Ter) rs2141051168
NM_000103.4(CYP19A1):c.787del (p.Arg263fs) rs1595671510
NM_000103.4(CYP19A1):c.787dup (p.Arg263fs) rs1595671510
NM_000103.4(CYP19A1):c.795del (p.Ile266fs) rs2542404539
NM_000103.4(CYP19A1):c.876_877del (p.Asn295fs) rs2542402114
NM_000103.4(CYP19A1):c.87del (p.Leu30fs) rs2542486879
NM_000103.4(CYP19A1):c.94_106dup (p.Leu36fs) rs2141123410

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