ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "uncertain significance" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)

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