ClinVar Miner

Variants in gene DNAI2 with conflicting interpretations "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: 20
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HGVS dbSNP gnomAD frequency
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002

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