ClinVar Miner

Variants in gene combination ANK2, LOC126807137 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn) rs140341680 0.00019
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu) rs35960628 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838 0.00014
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg) rs201619005 0.00013
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys) rs116253689 0.00010
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln) rs151218210 0.00009
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu) rs373153154 0.00007
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn) rs375139170 0.00006
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His) rs1298469624 0.00004
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys) rs562115547 0.00004
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln) rs1350377647 0.00001
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His) rs372545180 0.00001
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln) rs142684331 0.00001
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly) rs771826064 0.00001
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) rs777477439 0.00001
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly) rs28377576
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe) rs1564029811

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