ClinVar Miner

Variants in gene OTOF with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381

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