ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from OMIM and "pathogenic" from any submitter

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Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr) rs869320623 0.00003
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
Multiple alleles
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu) rs764786986
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro) rs2153741176
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001606.5(ABCA2):c.4903del (p.Val1635fs) rs1588511352
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_005151.4(USP14):c.233_236del (p.Leu78fs) rs2144233064
NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys) rs1553363925
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) rs397509432
NM_006513.4(SARS1):c.969+1_969+3del
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_021975.4(RELA):c.736C>T (p.Arg246Ter) rs1565190345
NM_024725.4(CCDC82):c.183del (p.Phe61fs) rs1866078752
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_144643.4(SCLT1):c.290+2T>C rs587777504
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377

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