ClinVar Miner

Variants in gene OTOF with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 54
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
NM_194248.3(OTOF):c.1579+19G>A rs192297517 0.00313
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00309
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.37C>T (p.Leu13=) rs76180450 0.00203
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.2407-17C>T rs111706333 0.00055
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00038
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
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.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.510-7del
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075

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