ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His) rs753309074 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_015978.3(TNNI3K):c.1051G>A (p.Gly351Ser) rs777466193 0.00001
NM_020461.4(TUBGCP6):c.1066G>A (p.Val356Met) rs773504995 0.00001
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621

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