ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard and "uncertain significance" from any submitter

Minimum review status of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard: Collection method of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 31
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HGVS dbSNP gnomAD frequency
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
Single allele

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