ClinVar Miner

Variants with conflicting interpretations "benign" from Reproductive Health Research and Development, BGI Genomics and "pathogenic" from any submitter

Minimum review status of the submission from Reproductive Health Research and Development, BGI Genomics: Collection method of the submission from Reproductive Health Research and Development, BGI Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
NM_000616.5(CD4):c.793C>T (p.Arg265Trp) rs28919570 0.06389
NC_000008.11:g.11573132C>T rs61199332 0.06287
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met) rs34315806 0.02416
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_006883.2(SHOX):c.-512C>A rs113313554
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442

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